Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?

A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.

Guardat en:
Dades bibliogràfiques
Autors principals: Winship, I M, Viljoen, D L, Leary, P M, De Moor, M M
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015794/
https://ncbi.nlm.nih.gov/pubmed/1956062
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars