Campomelic dysplasia: evidence of autosomal dominant inheritance.

We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disea...

ver descrição completa

Detalhes bibliográficos

Publicado no:	J Med Genet
Principais autores:	Lynch, S A, Gaunt, M L, Minford, A M
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 1993
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016499/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8411055/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.8.683
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!