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hypochondroplasia相关文献:
Hypochondroplasia.
Bober MB, Bellus GA, Nikkel SM, Tiller GE.
1999 Jul 15 [updated 2020 May 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:20301650
Hypochondroplasia.
Specht EE, Daentl DL.
Clin Orthop Relat Res. 1975 Jul-Aug;(110):249-55. doi: 10.1097/00003086-197507000-00036.
PMID:1098822
Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia.
Paley D.
Children (Basel). 2021 Jun 24;8(7):540. doi: 10.3390/children8070540.
PMID:34202538
Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice.
Loisay L, Komla-Ebri D, Morice A, Heuzé Y, Viaut C, de La Seiglière A, Kaci N, Chan D, Lamouroux A, Baujat G, Bassett JHD, Williams GR, Legeai-Mallet L.
JCI Insight. 2023 Jun 22;8(12):e168796. doi: 10.1172/jci.insight.168796.
PMID:37345656
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L.
Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2.
PMID:27987249
Hypochondroplasia.
Newman DE, Dunbar JC.
J Can Assoc Radiol. 1975 Jun;26(2):95-103.
PMID:1158967
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.
González-Del Angel A, Rius R, Alcántara-Ortigoza MA, Spector E, Del Castillo V, Mata-García LE.
Am J Med Genet A. 2018 May;176(5):1225-1231. doi: 10.1002/ajmg.a.38660.
PMID:29681095
Molecular genetics of hypochondroplasia.
Thakker RV.
Clin Endocrinol (Oxf). 1991 Apr;34(4):249-51. doi: 10.1111/j.1365-2265.1991.tb03762.x.
PMID:1678996
Vosoritide treatment for children with hypochondroplasia: a phase 2 trial.
Dauber A, Zhang A, Kanakatti Shankar R, Boucher K, McCarthy T, Shafaei N, Seaforth R, Castro MG, Dham N, Merchant N.
EClinicalMedicine. 2024 Apr 11;71:102591. doi: 10.1016/j.eclinm.2024.102591. eCollection 2024 May.
PMID:38813446
Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.
Bellus GA, McIntosh I, Szabo J, Aylsworth A, Kaitila I, Francomano CA.
Ann N Y Acad Sci. 1996 Jun 8;785:182-7. doi: 10.1111/j.1749-6632.1996.tb56257.x.
PMID:8702125
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