Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a very small number of children with this condition have been reported so far. Here we report on...

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Detalhes bibliográficos
Main Authors: Faivre, L, Le Merrer, M, Baumann, C, Polak, M, Chatelain, P, Sulmont, V, Cousin, J, Bost, M, Cordier, M, Zackai, E, Russell, K, Finidori, G, Pouliquen, J, Munnich, A, Maroteaux, P, Cormier-Daire, V
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734753/
https://ncbi.nlm.nih.gov/pubmed/11694546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.11.745
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