Etiology
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
MacCarrick G,
Aradhya S,
Bailey M,
Chu D,
Hunt A,
Izzo E,
Krakow D,
Mackenzie W,
Poll S,
Raggio C,
Shediac R,
White KK,
McLaughlin HM,
Seratti G
Am J Med Genet A
2024 Sep;194(9):e63646.
Epub 2024 May 3
doi: 10.1002/ajmg.a.63646.
PMID: 38702915
Harsanyi S,
Zamborsky R,
Krajciova L,
Kokavec M,
Danisovic L
Medicina (Kaunas)
2020 Mar 31;56(4)
doi: 10.3390/medicina56040153.
PMID: 32244273Free PMC Article
Tournis S,
Dede AD
Metabolism
2018 Mar;80:27-37.
Epub 2017 Jun 8
doi: 10.1016/j.metabol.2017.06.001.
PMID: 28625337
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
Diagnosis
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
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
Marom R,
Rabenhorst BM,
Morello R
Eur J Endocrinol
2020 Oct;183(4):R95-R106.
doi: 10.1530/EJE-20-0299.
PMID: 32621590Free PMC Article
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
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
doi: 10.1038/s41431-019-0373-x.
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
McKenna MJ,
Kristiansen AG,
Bartley ML,
Rogus JJ,
Haines JL
Am J Otol
1998 Sep;19(5):604-10.
PMID: 9752968
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
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
Tsipouras P,
Schwartz RC,
Goldberg JD,
Berkowitz RL,
Ramirez F
J Med Genet
1987 Jul;24(7):406-9.
doi: 10.1136/jmg.24.7.406.
PMID: 2886666Free 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