Etiology
Garibaldi N,
Besio R,
Dalgleish R,
Villani S,
Barnes AM,
Marini JC,
Forlino A
Dis Model Mech
2022 May 1;15(5)
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Harsanyi S,
Zamborsky R,
Krajciova L,
Kokavec M,
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Medicina (Kaunas)
2020 Mar 31;56(4)
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Tournis S,
Dede AD
Metabolism
2018 Mar;80:27-37.
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Wallace MJ,
Kruse RW,
Shah SA
J Am Acad Orthop Surg
2017 Feb;25(2):100-109.
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Anum EA,
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Pandya A,
Strauss JF 3rd
Placenta
2009 Mar;30(3):207-15.
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PMID: 19152976Free PMC Article
Diagnosis
Leone MP,
Morlino S,
Nardella G,
Pracella R,
Giachino D,
Celli L,
Baldo D,
Turolla L,
Piccione M,
Salzano E,
Busè M,
Lastella P,
Zollino M,
Cantone R,
Grosso E,
Zonta A,
Pasini B,
Piscopo C,
De Maggio I,
Priolo M,
Mammi C,
Foiadelli T,
Trabatti C,
Savasta S,
Iolascon A,
Ferraris A,
Lodato V,
Di Giosaffatte N,
Majore S,
Selicorni A,
Petracca A,
Fusco C,
Celli M,
Guarnieri V,
Micale L,
Castori M
Hum Genet
2023 Jun;142(6):785-808.
Epub 2023 Apr 20
doi: 10.1007/s00439-023-02547-z.
PMID: 37079061
Venable E,
Knight DRT,
Thoreson EK,
Baudhuin LM
Am J Med Genet C Semin Med Genet
2023 Jun;193(2):147-159.
Epub 2023 Mar 9
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PMID: 36896471
Marom R,
Rabenhorst BM,
Morello R
Eur J Endocrinol
2020 Oct;183(4):R95-R106.
doi: 10.1530/EJE-20-0299.
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Li L,
Mao B,
Li S,
Xiao J,
Wang H,
Zhang J,
Ren X,
Wang Y,
Wu Y,
Cao Y,
Lu C,
Gao J,
You Y,
Zhao F,
Geng X,
Xiao Y,
Jiang C,
Ye Y,
Yang T,
Zhao X,
Zhang X
Hum Mutat
2019 May;40(5):588-600.
Epub 2019 Feb 25
doi: 10.1002/humu.23718.
PMID: 30715774
Wallace MJ,
Kruse RW,
Shah SA
J Am Acad Orthop Surg
2017 Feb;25(2):100-109.
doi: 10.5435/JAAOS-D-15-00169.
PMID: 28009707
Therapy
Glorieux FH,
Langdahl B,
Chapurlat R,
De Beur SJ,
Sutton VR,
Poole KES,
Dahir KM,
Orwoll ES,
Willie BM,
Mikolajewicz N,
Zimmermann E,
Hosseinitabatabaei S,
Ominsky MS,
Saville C,
Clancy J,
MacKinnon A,
Mistry A,
Javaid MK
J Bone Miner Res
2024 Sep 2;39(9):1215-1228.
doi: 10.1093/jbmr/zjae112.
PMID: 39012717Free PMC Article
Corrêa T,
Feltes BC,
Gonzalez EA,
Baldo G,
Matte U
Interdiscip Sci
2021 Mar;13(1):34-43.
Epub 2021 Jan 21
doi: 10.1007/s12539-020-00406-3.
PMID: 33475959
Maioli M,
Gnoli M,
Boarini M,
Tremosini M,
Zambrano A,
Pedrini E,
Mordenti M,
Corsini S,
D'Eufemia P,
Versacci P,
Celli M,
Sangiorgi L
Eur J Hum Genet
2019 Jul;27(7):1090-1100.
Epub 2019 Mar 18
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PMID: 30886339Free PMC Article
Palomo T,
Al-Jallad H,
Moffatt P,
Glorieux FH,
Lentle B,
Roschger P,
Klaushofer K,
Rauch F
Bone
2014 Oct;67:63-70.
Epub 2014 Jul 8
doi: 10.1016/j.bone.2014.06.041.
PMID: 25010833
Gauglitz GG,
Bureik D,
Dombrowski Y,
Pavicic T,
Ruzicka T,
Schauber J
Skin Pharmacol Physiol
2012;25(6):313-8.
Epub 2012 Aug 31
doi: 10.1159/000342125.
PMID: 22948093
Prognosis
Leone MP,
Morlino S,
Nardella G,
Pracella R,
Giachino D,
Celli L,
Baldo D,
Turolla L,
Piccione M,
Salzano E,
Busè M,
Lastella P,
Zollino M,
Cantone R,
Grosso E,
Zonta A,
Pasini B,
Piscopo C,
De Maggio I,
Priolo M,
Mammi C,
Foiadelli T,
Trabatti C,
Savasta S,
Iolascon A,
Ferraris A,
Lodato V,
Di Giosaffatte N,
Majore S,
Selicorni A,
Petracca A,
Fusco C,
Celli M,
Guarnieri V,
Micale L,
Castori M
Hum Genet
2023 Jun;142(6):785-808.
Epub 2023 Apr 20
doi: 10.1007/s00439-023-02547-z.
PMID: 37079061
Yamaguti PM,
de La Dure-Molla M,
Monnot S,
Cardozo-Amaya YJ,
Baujat G,
Michot C,
Fournier BPJ,
Riou MC,
Caldas Rosa ECC,
Soares de Lima Y,
Dos Santos PAC,
Alcaraz G,
Guerra ENS,
Castro LC,
de Oliveira SF,
Pogue R,
Berdal A,
de Paula LM,
Mazzeu JF,
Cormier-Daire V,
Acevedo AC
J Dent Res
2023 Jun;102(6):616-625.
Epub 2023 Mar 23
doi: 10.1177/00220345231154569.
PMID: 36951356
Dachy G,
Fraitag S,
Boulouadnine B,
Cordi S,
Demoulin JB
J Cell Mol Med
2021 May;25(9):4387-4394.
Epub 2021 Apr 8
doi: 10.1111/jcmm.16502.
PMID: 33830670Free PMC Article
Maioli M,
Gnoli M,
Boarini M,
Tremosini M,
Zambrano A,
Pedrini E,
Mordenti M,
Corsini S,
D'Eufemia P,
Versacci P,
Celli M,
Sangiorgi L
Eur J Hum Genet
2019 Jul;27(7):1090-1100.
Epub 2019 Mar 18
doi: 10.1038/s41431-019-0373-x.
PMID: 30886339Free PMC Article
Lindahl K,
Åström E,
Rubin CJ,
Grigelioniene G,
Malmgren B,
Ljunggren Ö,
Kindmark A
Eur J Hum Genet
2015 Aug;23(8):1042-50.
Epub 2015 May 6
doi: 10.1038/ejhg.2015.81.
PMID: 25944380Free PMC Article
Clinical prediction guides
Leone MP,
Morlino S,
Nardella G,
Pracella R,
Giachino D,
Celli L,
Baldo D,
Turolla L,
Piccione M,
Salzano E,
Busè M,
Lastella P,
Zollino M,
Cantone R,
Grosso E,
Zonta A,
Pasini B,
Piscopo C,
De Maggio I,
Priolo M,
Mammi C,
Foiadelli T,
Trabatti C,
Savasta S,
Iolascon A,
Ferraris A,
Lodato V,
Di Giosaffatte N,
Majore S,
Selicorni A,
Petracca A,
Fusco C,
Celli M,
Guarnieri V,
Micale L,
Castori M
Hum Genet
2023 Jun;142(6):785-808.
Epub 2023 Apr 20
doi: 10.1007/s00439-023-02547-z.
PMID: 37079061
Venable E,
Knight DRT,
Thoreson EK,
Baudhuin LM
Am J Med Genet C Semin Med Genet
2023 Jun;193(2):147-159.
Epub 2023 Mar 9
doi: 10.1002/ajmg.c.32038.
PMID: 36896471
Dachy G,
Fraitag S,
Boulouadnine B,
Cordi S,
Demoulin JB
J Cell Mol Med
2021 May;25(9):4387-4394.
Epub 2021 Apr 8
doi: 10.1111/jcmm.16502.
PMID: 33830670Free PMC Article
Maioli M,
Gnoli M,
Boarini M,
Tremosini M,
Zambrano A,
Pedrini E,
Mordenti M,
Corsini S,
D'Eufemia P,
Versacci P,
Celli M,
Sangiorgi L
Eur J Hum Genet
2019 Jul;27(7):1090-1100.
Epub 2019 Mar 18
doi: 10.1038/s41431-019-0373-x.
PMID: 30886339Free PMC Article
Lindahl K,
Åström E,
Rubin CJ,
Grigelioniene G,
Malmgren B,
Ljunggren Ö,
Kindmark A
Eur J Hum Genet
2015 Aug;23(8):1042-50.
Epub 2015 May 6
doi: 10.1038/ejhg.2015.81.
PMID: 25944380Free PMC Article