Etiology
Tropitzsch A,
Schade-Mann T,
Gamerdinger P,
Dofek S,
Schulte B,
Schulze M,
Battke F,
Fehr S,
Biskup S,
Heyd A,
Müller M,
Löwenheim H,
Vona B,
Holderried M
Ear Hear
2022 May/Jun;43(3):1049-1066.
doi: 10.1097/AUD.0000000000001159.
PMID: 34753855Free PMC Article
Bowles B,
Ferrer A,
Nishimura CJ,
Pinto E Vairo F,
Rey T,
Leheup B,
Sullivan J,
Schoch K,
Stong N,
Agolini E,
Cocciadiferro D,
Williams A,
Cummings A,
Loddo S,
Genovese S,
Roadhouse C,
McWalter K;
Undiagnosed Diseases Network,
Wentzensen IM,
Li C,
Babovic-Vuksanovic D,
Lanpher BC,
Dentici ML,
Ankala A,
Hamm JA,
Dallapiccola B,
Radio FC,
Shashi V,
Gérard B,
Bloch-Zupan A,
Smith RJ,
Klee EW
Am J Med Genet A
2021 Aug;185(8):2417-2433.
Epub 2021 May 27
doi: 10.1002/ajmg.a.62347.
PMID: 34042254Free PMC Article
Sun T,
Xu K,
Ren Y,
Xie Y,
Zhang X,
Tian L,
Li Y
Invest Ophthalmol Vis Sci
2018 Mar 1;59(3):1229-1237.
doi: 10.1167/iovs.17-23312.
PMID: 29625443
Volo T,
Sathiyaseelan T,
Astolfi L,
Guaran V,
Trevisi P,
Emanuelli E,
Martini A
Int J Pediatr Otorhinolaryngol
2013 Aug;77(8):1280-5.
Epub 2013 Jun 14
doi: 10.1016/j.ijporl.2013.05.010.
PMID: 23751281
Snoeckx RL,
Huygen PL,
Feldmann D,
Marlin S,
Denoyelle F,
Waligora J,
Mueller-Malesinska M,
Pollak A,
Ploski R,
Murgia A,
Orzan E,
Castorina P,
Ambrosetti U,
Nowakowska-Szyrwinska E,
Bal J,
Wiszniewski W,
Janecke AR,
Nekahm-Heis D,
Seeman P,
Bendova O,
Kenna MA,
Frangulov A,
Rehm HL,
Tekin M,
Incesulu A,
Dahl HH,
du Sart D,
Jenkins L,
Lucas D,
Bitner-Glindzicz M,
Avraham KB,
Brownstein Z,
del Castillo I,
Moreno F,
Blin N,
Pfister M,
Sziklai I,
Toth T,
Kelley PM,
Cohn ES,
Van Maldergem L,
Hilbert P,
Roux AF,
Mondain M,
Hoefsloot LH,
Cremers CW,
Löppönen T,
Löppönen H,
Parving A,
Gronskov K,
Schrijver I,
Roberson J,
Gualandi F,
Martini A,
Lina-Granade G,
Pallares-Ruiz N,
Correia C,
Fialho G,
Cryns K,
Hilgert N,
Van de Heyning P,
Nishimura CJ,
Smith RJ,
Van Camp G
Am J Hum Genet
2005 Dec;77(6):945-57.
Epub 2005 Oct 19
doi: 10.1086/497996.
PMID: 16380907Free PMC Article
Diagnosis
Pál M,
Nagy D,
Neller A,
Farkas K,
Leprán-Török D,
Nagy N,
Füstös D,
Nagy R,
Németh A,
Szilvássy J,
Rovó L,
Kiss JG,
Széll M
Int J Mol Sci
2023 Apr 17;24(8)
doi: 10.3390/ijms24087401.
PMID: 37108562Free PMC Article
Bowles B,
Ferrer A,
Nishimura CJ,
Pinto E Vairo F,
Rey T,
Leheup B,
Sullivan J,
Schoch K,
Stong N,
Agolini E,
Cocciadiferro D,
Williams A,
Cummings A,
Loddo S,
Genovese S,
Roadhouse C,
McWalter K;
Undiagnosed Diseases Network,
Wentzensen IM,
Li C,
Babovic-Vuksanovic D,
Lanpher BC,
Dentici ML,
Ankala A,
Hamm JA,
Dallapiccola B,
Radio FC,
Shashi V,
Gérard B,
Bloch-Zupan A,
Smith RJ,
Klee EW
Am J Med Genet A
2021 Aug;185(8):2417-2433.
Epub 2021 May 27
doi: 10.1002/ajmg.a.62347.
PMID: 34042254Free PMC Article
Sun T,
Xu K,
Ren Y,
Xie Y,
Zhang X,
Tian L,
Li Y
Invest Ophthalmol Vis Sci
2018 Mar 1;59(3):1229-1237.
doi: 10.1167/iovs.17-23312.
PMID: 29625443
Sommen M,
Schrauwen I,
Vandeweyer G,
Boeckx N,
Corneveaux JJ,
van den Ende J,
Boudewyns A,
De Leenheer E,
Janssens S,
Claes K,
Verstreken M,
Strenzke N,
Predöhl F,
Wuyts W,
Mortier G,
Bitner-Glindzicz M,
Moser T,
Coucke P,
Huentelman MJ,
Van Camp G
Hum Mutat
2016 Aug;37(8):812-9.
Epub 2016 May 6
doi: 10.1002/humu.22999.
PMID: 27068579
Snoeckx RL,
Huygen PL,
Feldmann D,
Marlin S,
Denoyelle F,
Waligora J,
Mueller-Malesinska M,
Pollak A,
Ploski R,
Murgia A,
Orzan E,
Castorina P,
Ambrosetti U,
Nowakowska-Szyrwinska E,
Bal J,
Wiszniewski W,
Janecke AR,
Nekahm-Heis D,
Seeman P,
Bendova O,
Kenna MA,
Frangulov A,
Rehm HL,
Tekin M,
Incesulu A,
Dahl HH,
du Sart D,
Jenkins L,
Lucas D,
Bitner-Glindzicz M,
Avraham KB,
Brownstein Z,
del Castillo I,
Moreno F,
Blin N,
Pfister M,
Sziklai I,
Toth T,
Kelley PM,
Cohn ES,
Van Maldergem L,
Hilbert P,
Roux AF,
Mondain M,
Hoefsloot LH,
Cremers CW,
Löppönen T,
Löppönen H,
Parving A,
Gronskov K,
Schrijver I,
Roberson J,
Gualandi F,
Martini A,
Lina-Granade G,
Pallares-Ruiz N,
Correia C,
Fialho G,
Cryns K,
Hilgert N,
Van de Heyning P,
Nishimura CJ,
Smith RJ,
Van Camp G
Am J Hum Genet
2005 Dec;77(6):945-57.
Epub 2005 Oct 19
doi: 10.1086/497996.
PMID: 16380907Free PMC Article
Therapy
Mojtabavi Naeini M,
Mesrian Tanha H,
Hashemzadeh Chaleshtori M,
Vallian S
Genet Test Mol Biomarkers
2014 Dec;18(12):820-5.
doi: 10.1089/gtmb.2014.0178.
PMID: 25390158Free PMC Article
Prognosis
Doll J,
Hofrichter MAH,
Bahena P,
Heihoff A,
Segebarth D,
Müller T,
Dittrich M,
Haaf T,
Vona B
Mol Genet Genomic Med
2020 Aug;8(8):e1343.
Epub 2020 Jun 10
doi: 10.1002/mgg3.1343.
PMID: 32519820Free PMC Article
Xia H,
Huang X,
Guo Y,
Hu P,
He G,
Deng X,
Xu H,
Yang Z,
Deng H
PLoS One
2015;10(8):e0136306.
Epub 2015 Aug 26
doi: 10.1371/journal.pone.0136306.
PMID: 26308726Free PMC Article
Kim SY,
Kim AR,
Han KH,
Kim MY,
Jeon EH,
Koo JW,
Oh SH,
Choi BY
PLoS One
2015;10(6):e0125416.
Epub 2015 Jun 10
doi: 10.1371/journal.pone.0125416.
PMID: 26061264Free PMC Article
Chung J,
Park SM,
Chang SO,
Chung T,
Lee KY,
Kim AR,
Park JH,
Kim V,
Park WY,
Oh SH,
Kim D,
Park WJ,
Choi BY
J Mol Med (Berl)
2014 Jun;92(6):651-63.
Epub 2014 Feb 15
doi: 10.1007/s00109-014-1128-3.
PMID: 24526180
Clinical prediction guides
Doll J,
Hofrichter MAH,
Bahena P,
Heihoff A,
Segebarth D,
Müller T,
Dittrich M,
Haaf T,
Vona B
Mol Genet Genomic Med
2020 Aug;8(8):e1343.
Epub 2020 Jun 10
doi: 10.1002/mgg3.1343.
PMID: 32519820Free PMC Article
Xia H,
Huang X,
Guo Y,
Hu P,
He G,
Deng X,
Xu H,
Yang Z,
Deng H
PLoS One
2015;10(8):e0136306.
Epub 2015 Aug 26
doi: 10.1371/journal.pone.0136306.
PMID: 26308726Free PMC Article
Kim SY,
Kim AR,
Han KH,
Kim MY,
Jeon EH,
Koo JW,
Oh SH,
Choi BY
PLoS One
2015;10(6):e0125416.
Epub 2015 Jun 10
doi: 10.1371/journal.pone.0125416.
PMID: 26061264Free PMC Article
Mohseni M,
Honarpour A,
Mozafari R,
Davarnia B,
Najmabadi H,
Kahrizi K
Int J Pediatr Otorhinolaryngol
2014 Nov;78(11):1828-32.
Epub 2014 Sep 1
doi: 10.1016/j.ijporl.2014.08.035.
PMID: 25239229
Cohn ES,
Kelley PM,
Fowler TW,
Gorga MP,
Lefkowitz DM,
Kuehn HJ,
Schaefer GB,
Gobar LS,
Hahn FJ,
Harris DJ,
Kimberling WJ
Pediatrics
1999 Mar;103(3):546-50.
doi: 10.1542/peds.103.3.546.
PMID: 10049954