Etiology
Birjiniuk A,
Weisman AG,
Laternser C,
Camarda J,
Brickman WJ,
Habiby R,
Patel SR
Pediatr Cardiol
2024 Oct;45(7):1407-1414.
Epub 2023 May 5
doi: 10.1007/s00246-023-03159-0.
PMID: 37147524
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Ruth KS,
Day FR,
Hussain J,
Martínez-Marchal A,
Aiken CE,
Azad A,
Thompson DJ,
Knoblochova L,
Abe H,
Tarry-Adkins JL,
Gonzalez JM,
Fontanillas P,
Claringbould A,
Bakker OB,
Sulem P,
Walters RG,
Terao C,
Turon S,
Horikoshi M,
Lin K,
Onland-Moret NC,
Sankar A,
Hertz EPT,
Timshel PN,
Shukla V,
Borup R,
Olsen KW,
Aguilera P,
Ferrer-Roda M,
Huang Y,
Stankovic S,
Timmers PRHJ,
Ahearn TU,
Alizadeh BZ,
Naderi E,
Andrulis IL,
Arnold AM,
Aronson KJ,
Augustinsson A,
Bandinelli S,
Barbieri CM,
Beaumont RN,
Becher H,
Beckmann MW,
Benonisdottir S,
Bergmann S,
Bochud M,
Boerwinkle E,
Bojesen SE,
Bolla MK,
Boomsma DI,
Bowker N,
Brody JA,
Broer L,
Buring JE,
Campbell A,
Campbell H,
Castelao JE,
Catamo E,
Chanock SJ,
Chenevix-Trench G,
Ciullo M,
Corre T,
Couch FJ,
Cox A,
Crisponi L,
Cross SS,
Cucca F,
Czene K,
Smith GD,
de Geus EJCN,
de Mutsert R,
De Vivo I,
Demerath EW,
Dennis J,
Dunning AM,
Dwek M,
Eriksson M,
Esko T,
Fasching PA,
Faul JD,
Ferrucci L,
Franceschini N,
Frayling TM,
Gago-Dominguez M,
Mezzavilla M,
García-Closas M,
Gieger C,
Giles GG,
Grallert H,
Gudbjartsson DF,
Gudnason V,
Guénel P,
Haiman CA,
Håkansson N,
Hall P,
Hayward C,
He C,
He W,
Heiss G,
Høffding MK,
Hopper JL,
Hottenga JJ,
Hu F,
Hunter D,
Ikram MA,
Jackson RD,
Joaquim MDR,
John EM,
Joshi PK,
Karasik D,
Kardia SLR,
Kartsonaki C,
Karlsson R,
Kitahara CM,
Kolcic I,
Kooperberg C,
Kraft P,
Kurian AW,
Kutalik Z,
La Bianca M,
LaChance G,
Langenberg C,
Launer LJ,
Laven JSE,
Lawlor DA,
Le Marchand L,
Li J,
Lindblom A,
Lindstrom S,
Lindstrom T,
Linet M,
Liu Y,
Liu S,
Luan J,
Mägi R,
Magnusson PKE,
Mangino M,
Mannermaa A,
Marco B,
Marten J,
Martin NG,
Mbarek H,
McKnight B,
Medland SE,
Meisinger C,
Meitinger T,
Menni C,
Metspalu A,
Milani L,
Milne RL,
Montgomery GW,
Mook-Kanamori DO,
Mulas A,
Mulligan AM,
Murray A,
Nalls MA,
Newman A,
Noordam R,
Nutile T,
Nyholt DR,
Olshan AF,
Olsson H,
Painter JN,
Patel AV,
Pedersen NL,
Perjakova N,
Peters A,
Peters U,
Pharoah PDP,
Polasek O,
Porcu E,
Psaty BM,
Rahman I,
Rennert G,
Rennert HS,
Ridker PM,
Ring SM,
Robino A,
Rose LM,
Rosendaal FR,
Rossouw J,
Rudan I,
Rueedi R,
Ruggiero D,
Sala CF,
Saloustros E,
Sandler DP,
Sanna S,
Sawyer EJ,
Sarnowski C,
Schlessinger D,
Schmidt MK,
Schoemaker MJ,
Schraut KE,
Scott C,
Shekari S,
Shrikhande A,
Smith AV,
Smith BH,
Smith JA,
Sorice R,
Southey MC,
Spector TD,
Spinelli JJ,
Stampfer M,
Stöckl D,
van Meurs JBJ,
Strauch K,
Styrkarsdottir U,
Swerdlow AJ,
Tanaka T,
Teras LR,
Teumer A,
Þorsteinsdottir U,
Timpson NJ,
Toniolo D,
Traglia M,
Troester MA,
Truong T,
Tyrrell J,
Uitterlinden AG,
Ulivi S,
Vachon CM,
Vitart V,
Völker U,
Vollenweider P,
Völzke H,
Wang Q,
Wareham NJ,
Weinberg CR,
Weir DR,
Wilcox AN,
van Dijk KW,
Willemsen G,
Wilson JF,
Wolffenbuttel BHR,
Wolk A,
Wood AR,
Zhao W,
Zygmunt M;
Biobank-based Integrative Omics Study (BIOS) Consortium;
eQTLGen Consortium;
Biobank Japan Project;
China Kadoorie Biobank Collaborative Group;
kConFab Investigators;
LifeLines Cohort Study;
InterAct consortium;
23andMe Research Team,
Chen Z,
Li L,
Franke L,
Burgess S,
Deelen P,
Pers TH,
Grøndahl ML,
Andersen CY,
Pujol A,
Lopez-Contreras AJ,
Daniel JA,
Stefansson K,
Chang-Claude J,
van der Schouw YT,
Lunetta KL,
Chasman DI,
Easton DF,
Visser JA,
Ozanne SE,
Namekawa SH,
Solc P,
Murabito JM,
Ong KK,
Hoffmann ER,
Murray A,
Roig I,
Perry JRB
Nature
2021 Aug;596(7872):393-397.
Epub 2021 Aug 4
doi: 10.1038/s41586-021-03779-7.
PMID: 34349265Free PMC Article
Bois E,
Nassar M,
Zenaty D,
Léger J,
Van Den Abbeele T,
Teissier N
Eur Ann Otorhinolaryngol Head Neck Dis
2018 Feb;135(1):21-24.
Epub 2017 Sep 21
doi: 10.1016/j.anorl.2017.08.006.
PMID: 28941966
Johansson B,
Mertens F,
Mitelman F
Genes Chromosomes Cancer
1993 Dec;8(4):205-18.
doi: 10.1002/gcc.2870080402.
PMID: 7512363
Diagnosis
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Ruth KS,
Day FR,
Hussain J,
Martínez-Marchal A,
Aiken CE,
Azad A,
Thompson DJ,
Knoblochova L,
Abe H,
Tarry-Adkins JL,
Gonzalez JM,
Fontanillas P,
Claringbould A,
Bakker OB,
Sulem P,
Walters RG,
Terao C,
Turon S,
Horikoshi M,
Lin K,
Onland-Moret NC,
Sankar A,
Hertz EPT,
Timshel PN,
Shukla V,
Borup R,
Olsen KW,
Aguilera P,
Ferrer-Roda M,
Huang Y,
Stankovic S,
Timmers PRHJ,
Ahearn TU,
Alizadeh BZ,
Naderi E,
Andrulis IL,
Arnold AM,
Aronson KJ,
Augustinsson A,
Bandinelli S,
Barbieri CM,
Beaumont RN,
Becher H,
Beckmann MW,
Benonisdottir S,
Bergmann S,
Bochud M,
Boerwinkle E,
Bojesen SE,
Bolla MK,
Boomsma DI,
Bowker N,
Brody JA,
Broer L,
Buring JE,
Campbell A,
Campbell H,
Castelao JE,
Catamo E,
Chanock SJ,
Chenevix-Trench G,
Ciullo M,
Corre T,
Couch FJ,
Cox A,
Crisponi L,
Cross SS,
Cucca F,
Czene K,
Smith GD,
de Geus EJCN,
de Mutsert R,
De Vivo I,
Demerath EW,
Dennis J,
Dunning AM,
Dwek M,
Eriksson M,
Esko T,
Fasching PA,
Faul JD,
Ferrucci L,
Franceschini N,
Frayling TM,
Gago-Dominguez M,
Mezzavilla M,
García-Closas M,
Gieger C,
Giles GG,
Grallert H,
Gudbjartsson DF,
Gudnason V,
Guénel P,
Haiman CA,
Håkansson N,
Hall P,
Hayward C,
He C,
He W,
Heiss G,
Høffding MK,
Hopper JL,
Hottenga JJ,
Hu F,
Hunter D,
Ikram MA,
Jackson RD,
Joaquim MDR,
John EM,
Joshi PK,
Karasik D,
Kardia SLR,
Kartsonaki C,
Karlsson R,
Kitahara CM,
Kolcic I,
Kooperberg C,
Kraft P,
Kurian AW,
Kutalik Z,
La Bianca M,
LaChance G,
Langenberg C,
Launer LJ,
Laven JSE,
Lawlor DA,
Le Marchand L,
Li J,
Lindblom A,
Lindstrom S,
Lindstrom T,
Linet M,
Liu Y,
Liu S,
Luan J,
Mägi R,
Magnusson PKE,
Mangino M,
Mannermaa A,
Marco B,
Marten J,
Martin NG,
Mbarek H,
McKnight B,
Medland SE,
Meisinger C,
Meitinger T,
Menni C,
Metspalu A,
Milani L,
Milne RL,
Montgomery GW,
Mook-Kanamori DO,
Mulas A,
Mulligan AM,
Murray A,
Nalls MA,
Newman A,
Noordam R,
Nutile T,
Nyholt DR,
Olshan AF,
Olsson H,
Painter JN,
Patel AV,
Pedersen NL,
Perjakova N,
Peters A,
Peters U,
Pharoah PDP,
Polasek O,
Porcu E,
Psaty BM,
Rahman I,
Rennert G,
Rennert HS,
Ridker PM,
Ring SM,
Robino A,
Rose LM,
Rosendaal FR,
Rossouw J,
Rudan I,
Rueedi R,
Ruggiero D,
Sala CF,
Saloustros E,
Sandler DP,
Sanna S,
Sawyer EJ,
Sarnowski C,
Schlessinger D,
Schmidt MK,
Schoemaker MJ,
Schraut KE,
Scott C,
Shekari S,
Shrikhande A,
Smith AV,
Smith BH,
Smith JA,
Sorice R,
Southey MC,
Spector TD,
Spinelli JJ,
Stampfer M,
Stöckl D,
van Meurs JBJ,
Strauch K,
Styrkarsdottir U,
Swerdlow AJ,
Tanaka T,
Teras LR,
Teumer A,
Þorsteinsdottir U,
Timpson NJ,
Toniolo D,
Traglia M,
Troester MA,
Truong T,
Tyrrell J,
Uitterlinden AG,
Ulivi S,
Vachon CM,
Vitart V,
Völker U,
Vollenweider P,
Völzke H,
Wang Q,
Wareham NJ,
Weinberg CR,
Weir DR,
Wilcox AN,
van Dijk KW,
Willemsen G,
Wilson JF,
Wolffenbuttel BHR,
Wolk A,
Wood AR,
Zhao W,
Zygmunt M;
Biobank-based Integrative Omics Study (BIOS) Consortium;
eQTLGen Consortium;
Biobank Japan Project;
China Kadoorie Biobank Collaborative Group;
kConFab Investigators;
LifeLines Cohort Study;
InterAct consortium;
23andMe Research Team,
Chen Z,
Li L,
Franke L,
Burgess S,
Deelen P,
Pers TH,
Grøndahl ML,
Andersen CY,
Pujol A,
Lopez-Contreras AJ,
Daniel JA,
Stefansson K,
Chang-Claude J,
van der Schouw YT,
Lunetta KL,
Chasman DI,
Easton DF,
Visser JA,
Ozanne SE,
Namekawa SH,
Solc P,
Murabito JM,
Ong KK,
Hoffmann ER,
Murray A,
Roig I,
Perry JRB
Nature
2021 Aug;596(7872):393-397.
Epub 2021 Aug 4
doi: 10.1038/s41586-021-03779-7.
PMID: 34349265Free PMC Article
Cammarata-Scalisi F,
Briceño Y,
Cegarra E,
Montilla D
Bol Med Hosp Infant Mex
2019;76(2):100-103.
doi: 10.24875/BMHIM.18000108.
PMID: 30907385
Paz-Y-Miño C,
Guevara-Aguirre J,
Paz-Y-Miño A,
Velarde F,
Armendáriz-Castillo I,
Yumiceba V,
Hernández JM,
García JL,
Leone PE
J Med Case Rep
2018 Nov 16;12(1):340.
doi: 10.1186/s13256-018-1879-5.
PMID: 30442194Free PMC Article
Mizuno Y,
Hattori N,
Mori H,
Suzuki T,
Tanaka K
Curr Opin Neurol
2001 Aug;14(4):477-82.
doi: 10.1097/00019052-200108000-00008.
PMID: 11470964
Therapy
Chen M,
Ke X,
Liang H,
Gong F,
Yang H,
Wang L,
Duan L,
Pan H,
Cao D,
Zhu H
Mol Genet Genomic Med
2021 Dec;9(12):e1842.
Epub 2021 Nov 8
doi: 10.1002/mgg3.1842.
PMID: 34747577Free PMC Article
Guerrero-Carbajal C,
Romero-Aguilera I,
Arceo-Maldonado C,
Gonzalez-Mesa JE,
Cortina-Ramirez GE,
Garcia-Lima O
Int J Radiat Biol
2019 May;95(5):607-610.
Epub 2019 Jan 25
doi: 10.1080/09553002.2019.1566677.
PMID: 30615557
Spinner NB,
Saitta SC,
Delaney DP,
Colliton R,
Zderic SA,
Ruchelli E,
Zackai E,
Kolon TF
Am J Med Genet A
2008 Jul 15;146A(14):1828-31.
doi: 10.1002/ajmg.a.32358.
PMID: 18553511
El-Mansoury M,
Barrenäs ML,
Bryman I,
Hanson C,
Larsson C,
Wilhelmsen L,
Landin-Wilhelmsen K
Clin Endocrinol (Oxf)
2007 May;66(5):744-51.
Epub 2007 Mar 23
doi: 10.1111/j.1365-2265.2007.02807.x.
PMID: 17381484
Grass FS,
Brown CA,
Backeljauw PF,
Lucas A,
Brasington C,
Gazak JM,
Nakano S,
Ostrowski RS,
Spence JE
Am J Med Genet
2000 Aug 28;93(5):343-8.
PMID: 10951455
Prognosis
Ruth KS,
Day FR,
Hussain J,
Martínez-Marchal A,
Aiken CE,
Azad A,
Thompson DJ,
Knoblochova L,
Abe H,
Tarry-Adkins JL,
Gonzalez JM,
Fontanillas P,
Claringbould A,
Bakker OB,
Sulem P,
Walters RG,
Terao C,
Turon S,
Horikoshi M,
Lin K,
Onland-Moret NC,
Sankar A,
Hertz EPT,
Timshel PN,
Shukla V,
Borup R,
Olsen KW,
Aguilera P,
Ferrer-Roda M,
Huang Y,
Stankovic S,
Timmers PRHJ,
Ahearn TU,
Alizadeh BZ,
Naderi E,
Andrulis IL,
Arnold AM,
Aronson KJ,
Augustinsson A,
Bandinelli S,
Barbieri CM,
Beaumont RN,
Becher H,
Beckmann MW,
Benonisdottir S,
Bergmann S,
Bochud M,
Boerwinkle E,
Bojesen SE,
Bolla MK,
Boomsma DI,
Bowker N,
Brody JA,
Broer L,
Buring JE,
Campbell A,
Campbell H,
Castelao JE,
Catamo E,
Chanock SJ,
Chenevix-Trench G,
Ciullo M,
Corre T,
Couch FJ,
Cox A,
Crisponi L,
Cross SS,
Cucca F,
Czene K,
Smith GD,
de Geus EJCN,
de Mutsert R,
De Vivo I,
Demerath EW,
Dennis J,
Dunning AM,
Dwek M,
Eriksson M,
Esko T,
Fasching PA,
Faul JD,
Ferrucci L,
Franceschini N,
Frayling TM,
Gago-Dominguez M,
Mezzavilla M,
García-Closas M,
Gieger C,
Giles GG,
Grallert H,
Gudbjartsson DF,
Gudnason V,
Guénel P,
Haiman CA,
Håkansson N,
Hall P,
Hayward C,
He C,
He W,
Heiss G,
Høffding MK,
Hopper JL,
Hottenga JJ,
Hu F,
Hunter D,
Ikram MA,
Jackson RD,
Joaquim MDR,
John EM,
Joshi PK,
Karasik D,
Kardia SLR,
Kartsonaki C,
Karlsson R,
Kitahara CM,
Kolcic I,
Kooperberg C,
Kraft P,
Kurian AW,
Kutalik Z,
La Bianca M,
LaChance G,
Langenberg C,
Launer LJ,
Laven JSE,
Lawlor DA,
Le Marchand L,
Li J,
Lindblom A,
Lindstrom S,
Lindstrom T,
Linet M,
Liu Y,
Liu S,
Luan J,
Mägi R,
Magnusson PKE,
Mangino M,
Mannermaa A,
Marco B,
Marten J,
Martin NG,
Mbarek H,
McKnight B,
Medland SE,
Meisinger C,
Meitinger T,
Menni C,
Metspalu A,
Milani L,
Milne RL,
Montgomery GW,
Mook-Kanamori DO,
Mulas A,
Mulligan AM,
Murray A,
Nalls MA,
Newman A,
Noordam R,
Nutile T,
Nyholt DR,
Olshan AF,
Olsson H,
Painter JN,
Patel AV,
Pedersen NL,
Perjakova N,
Peters A,
Peters U,
Pharoah PDP,
Polasek O,
Porcu E,
Psaty BM,
Rahman I,
Rennert G,
Rennert HS,
Ridker PM,
Ring SM,
Robino A,
Rose LM,
Rosendaal FR,
Rossouw J,
Rudan I,
Rueedi R,
Ruggiero D,
Sala CF,
Saloustros E,
Sandler DP,
Sanna S,
Sawyer EJ,
Sarnowski C,
Schlessinger D,
Schmidt MK,
Schoemaker MJ,
Schraut KE,
Scott C,
Shekari S,
Shrikhande A,
Smith AV,
Smith BH,
Smith JA,
Sorice R,
Southey MC,
Spector TD,
Spinelli JJ,
Stampfer M,
Stöckl D,
van Meurs JBJ,
Strauch K,
Styrkarsdottir U,
Swerdlow AJ,
Tanaka T,
Teras LR,
Teumer A,
Þorsteinsdottir U,
Timpson NJ,
Toniolo D,
Traglia M,
Troester MA,
Truong T,
Tyrrell J,
Uitterlinden AG,
Ulivi S,
Vachon CM,
Vitart V,
Völker U,
Vollenweider P,
Völzke H,
Wang Q,
Wareham NJ,
Weinberg CR,
Weir DR,
Wilcox AN,
van Dijk KW,
Willemsen G,
Wilson JF,
Wolffenbuttel BHR,
Wolk A,
Wood AR,
Zhao W,
Zygmunt M;
Biobank-based Integrative Omics Study (BIOS) Consortium;
eQTLGen Consortium;
Biobank Japan Project;
China Kadoorie Biobank Collaborative Group;
kConFab Investigators;
LifeLines Cohort Study;
InterAct consortium;
23andMe Research Team,
Chen Z,
Li L,
Franke L,
Burgess S,
Deelen P,
Pers TH,
Grøndahl ML,
Andersen CY,
Pujol A,
Lopez-Contreras AJ,
Daniel JA,
Stefansson K,
Chang-Claude J,
van der Schouw YT,
Lunetta KL,
Chasman DI,
Easton DF,
Visser JA,
Ozanne SE,
Namekawa SH,
Solc P,
Murabito JM,
Ong KK,
Hoffmann ER,
Murray A,
Roig I,
Perry JRB
Nature
2021 Aug;596(7872):393-397.
Epub 2021 Aug 4
doi: 10.1038/s41586-021-03779-7.
PMID: 34349265Free PMC Article
Rajangam S,
Nanjappa L
Saudi Med J
2007 Feb;28(2):187-92.
PMID: 17268694
Grass FS,
Brown CA,
Backeljauw PF,
Lucas A,
Brasington C,
Gazak JM,
Nakano S,
Ostrowski RS,
Spence JE
Am J Med Genet
2000 Aug 28;93(5):343-8.
PMID: 10951455
Yoshida A,
Miura K,
Shirai M
Urol Int
1997;58(3):166-76.
doi: 10.1159/000282975.
PMID: 9188138
Wegner RD,
Scherer G,
Pohlschmidt M,
L'Allemand D,
Gal A
Clin Genet
1992 Aug;42(2):71-5.
doi: 10.1111/j.1399-0004.1992.tb03142.x.
PMID: 1424234
Clinical prediction guides
Meenakshi C,
Venkatachalam P,
Satish Srinivas K,
Chandrasekaran S,
Venkatraman B
Mutat Res Genet Toxicol Environ Mutagen
2022 Jul-Aug;879-880:503501.
Epub 2022 May 18
doi: 10.1016/j.mrgentox.2022.503501.
PMID: 35914861
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Paz-Y-Miño C,
Guevara-Aguirre J,
Paz-Y-Miño A,
Velarde F,
Armendáriz-Castillo I,
Yumiceba V,
Hernández JM,
García JL,
Leone PE
J Med Case Rep
2018 Nov 16;12(1):340.
doi: 10.1186/s13256-018-1879-5.
PMID: 30442194Free PMC Article
van Oven M,
Brauer S,
Choi Y,
Ensing J,
Schiefenhövel W,
Stoneking M,
Kayser M
Eur J Hum Genet
2014 Dec;22(12):1393-403.
Epub 2014 Mar 12
doi: 10.1038/ejhg.2014.38.
PMID: 24619143Free PMC Article
Domingo-Claros A,
Larriba I,
Rozman M,
Irriguible D,
Vallespí T,
Aventin A,
Ayats R,
Millá F,
Solé F,
Florensa L,
Gallart M,
Tuset E,
Lopez C,
Woessner S
Haematologica
2002 Feb;87(2):148-53.
PMID: 11836165