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; 1993–2025.
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.
Hypochondroplasia.
Specht EE, Daentl DL.
Clin Orthop Relat Res. 1975 Jul-Aug;(110):249-55. doi: 10.1097/00003086-197507000-00036.
Extensive Limb Lengthening for Achondroplasia and Hypochondroplasia.
Paley D.
Children (Basel). 2021 Jun 24;8(7):540. doi: 10.3390/children8070540.
Hypochondroplasia.
Walker BA, Murdoch JL, McKusick VA, Langer LO, Beals RK.
Am J Dis Child. 1971 Aug;122(2):95-104. doi: 10.1001/archpedi.1971.02110020029001.
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.
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.
Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M.
Am J Med Genet A. 2021 Jan;185(1):73-82. doi: 10.1002/ajmg.a.61912. Epub 2020 Oct 14.
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.
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
Muguet Guenot L, Aubert H, Isidor B, Toutain A, Mazereeuw-Hautier J, Collet C, Bourrat E, Denis Musquer M, Barbarot S; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique.
Pediatr Dermatol. 2019 Mar;36(2):242-246. doi: 10.1111/pde.13748. Epub 2019 Feb 14.
