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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Detalles Bibliográficos
Autores principales: Korkmaz, Hüseyin Anıl, Hazan, Filiz, Dizdarer, Ceyhun, Tükün, Ajlan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537291/
https://www.ncbi.nlm.nih.gov/pubmed/23149434
http://dx.doi.org/10.4274/Jcrpe.787

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537291/
https://www.ncbi.nlm.nih.gov/pubmed/23149434
http://dx.doi.org/10.4274/Jcrpe.787

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