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.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Winship, I M, Viljoen, D L, Leary, P M, De Moor, M M
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1991
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015794/
https://ncbi.nlm.nih.gov/pubmed/1956062
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg