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Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3

Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are we...

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Bibliografske podrobnosti
Main Authors: Korkmaz, Hüseyin Anıl, Hazan, Filiz, Dizdarer, Ceyhun, Tükün, Ajlan
Format: Artigo
Jezik:Inglês
Izdano: Galenos Publishing 2012
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3537291/
https://ncbi.nlm.nih.gov/pubmed/23149434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/Jcrpe.787
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