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.
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PMID: 39012717Free PMC Article
Botor M,
Fus-Kujawa A,
Uroczynska M,
Stepien KL,
Galicka A,
Gawron K,
Sieron AL
Biomolecules
2021 Oct 10;11(10)
doi: 10.3390/biom11101493.
PMID: 34680126Free PMC Article
Harrington J,
Sochett E
Pediatr Clin North Am
2015 Aug;62(4):841-55.
Epub 2015 May 13
doi: 10.1016/j.pcl.2015.04.006.
PMID: 26210620
Arundel P,
Bishop N
Endocr Dev
2015;28:162-175.
Epub 2015 Jun 12
doi: 10.1159/000381037.
PMID: 26138841
Kocher MS,
Shapiro F
J Am Acad Orthop Surg
1998 Jul-Aug;6(4):225-36.
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PMID: 9682085
Diagnosis
Deguchi M,
Tsuji S,
Katsura D,
Kasahara K,
Kimura F,
Murakami T
Medicina (Kaunas)
2021 May 10;57(5)
doi: 10.3390/medicina57050464.
PMID: 34068551Free PMC Article
Bardai G,
Moffatt P,
Glorieux FH,
Rauch F
Osteoporos Int
2016 Dec;27(12):3607-3613.
Epub 2016 Aug 11
doi: 10.1007/s00198-016-3709-1.
PMID: 27509835
Arundel P,
Bishop N
Endocr Dev
2015;28:162-175.
Epub 2015 Jun 12
doi: 10.1159/000381037.
PMID: 26138841
Harrington J,
Sochett E,
Howard A
Pediatr Clin North Am
2014 Dec;61(6):1243-57.
Epub 2014 Sep 22
doi: 10.1016/j.pcl.2014.08.010.
PMID: 25439022
Kocher MS,
Shapiro F
J Am Acad Orthop Surg
1998 Jul-Aug;6(4):225-36.
doi: 10.5435/00124635-199807000-00004.
PMID: 9682085
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
Deguchi M,
Tsuji S,
Katsura D,
Kasahara K,
Kimura F,
Murakami T
Medicina (Kaunas)
2021 May 10;57(5)
doi: 10.3390/medicina57050464.
PMID: 34068551Free PMC Article
Harrington J,
Sochett E
Pediatr Clin North Am
2015 Aug;62(4):841-55.
Epub 2015 May 13
doi: 10.1016/j.pcl.2015.04.006.
PMID: 26210620
Arundel P,
Bishop N
Endocr Dev
2015;28:162-175.
Epub 2015 Jun 12
doi: 10.1159/000381037.
PMID: 26138841
Harrington J,
Sochett E,
Howard A
Pediatr Clin North Am
2014 Dec;61(6):1243-57.
Epub 2014 Sep 22
doi: 10.1016/j.pcl.2014.08.010.
PMID: 25439022
Prognosis
Mei Y,
Jiang Y,
Shen L,
Meng Z,
Zhang Z,
Zhang H
Orphanet J Rare Dis
2024 Mar 12;19(1):116.
doi: 10.1186/s13023-024-03089-x.
PMID: 38475860Free PMC Article
Travessa AM,
Dias P,
Rosmaninho-Salgado J,
Aza-Carmona M,
Moldovan O,
Díaz-González F,
Godinho F,
Romeu JC,
Oliveira-Ramos F,
do Céu Barreiros M,
Sousa SB,
Heath KE,
Sousa AB
Eur J Med Genet
2023 Nov;66(11):104867.
Epub 2023 Oct 13
doi: 10.1016/j.ejmg.2023.104867.
PMID: 37839784
Deguchi M,
Tsuji S,
Katsura D,
Kasahara K,
Kimura F,
Murakami T
Medicina (Kaunas)
2021 May 10;57(5)
doi: 10.3390/medicina57050464.
PMID: 34068551Free PMC Article
Rao R,
Cuthbertson D,
Nagamani SCS,
Sutton VR,
Lee BH,
Krischer J,
Krakow D
Am J Obstet Gynecol MFM
2021 Jul;3(4):100362.
Epub 2021 Mar 26
doi: 10.1016/j.ajogmf.2021.100362.
PMID: 33781976Free PMC Article
Pauli RM,
Modaff P,
Sipes SL,
Whyte MP
Am J Med Genet
1999 Oct 29;86(5):434-8.
doi: 10.1002/(sici)1096-8628(19991029)86:5<434::aid-ajmg8>3.0.co;2-c.
PMID: 10508985
Clinical prediction guides
Misof BM,
Fratzl-Zelman N
Calcif Tissue Int
2024 Dec;115(6):777-804.
Epub 2024 Sep 4
doi: 10.1007/s00223-024-01263-8.
PMID: 39231826
Yang L,
Liu B,
Dong X,
Wu J,
Sun C,
Xi L,
Cheng R,
Wu B,
Wang H,
Tong S,
Wang D,
Luo F
Osteoporos Int
2022 Jun;33(6):1373-1384.
Epub 2022 Jan 19
doi: 10.1007/s00198-021-06263-0.
PMID: 35044492Free PMC Article
Deguchi M,
Tsuji S,
Katsura D,
Kasahara K,
Kimura F,
Murakami T
Medicina (Kaunas)
2021 May 10;57(5)
doi: 10.3390/medicina57050464.
PMID: 34068551Free PMC Article
Weiss K,
Lazar HP,
Kurolap A,
Martinez AF,
Paperna T,
Cohen L,
Smeland MF,
Whalen S,
Heide S,
Keren B,
Terhal P,
Irving M,
Takaku M,
Roberts JD,
Petrovich RM,
Schrier Vergano SA,
Kenney A,
Hove H,
DeChene E,
Quinonez SC,
Colin E,
Ziegler A,
Rumple M,
Jain M,
Monteil D,
Roeder ER,
Nugent K,
van Haeringen A,
Gambello M,
Santani A,
Medne L,
Krock B,
Skraban CM,
Zackai EH,
Dubbs HA,
Smol T,
Ghoumid J,
Parker MJ,
Wright M,
Turnpenny P,
Clayton-Smith J,
Metcalfe K,
Kurumizaka H,
Gelb BD,
Baris Feldman H,
Campeau PM,
Muenke M,
Wade PA,
Lachlan K
Genet Med
2020 Feb;22(2):389-397.
Epub 2019 Aug 7
doi: 10.1038/s41436-019-0612-0.
PMID: 31388190Free PMC Article
Bardai G,
Moffatt P,
Glorieux FH,
Rauch F
Osteoporos Int
2016 Dec;27(12):3607-3613.
Epub 2016 Aug 11
doi: 10.1007/s00198-016-3709-1.
PMID: 27509835