Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

We describe a large family with a connective-tissue disorder that exhibits some of the skeletal and cardiovascular features seen in Marfan syndrome. However, none of the 19 affected individuals displayed ocular abnormalities and therefore did not comply with recognized criteria for this disease. The...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Boileau, Catherine, Jondeau, Guillaume, Babron, Marie-Claude, Coulon, Monique, Alexandre, Jeanne-Armelle, Sakai, Lynn, Melki, Judith, Delorme, Gabriel, Dubourg, Olivier, Bonaïti-Pellié, Catherine, Bourdarias, Jean-Pierre, Junien, Claudine
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682251/
https://ncbi.nlm.nih.gov/pubmed/8317497
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados