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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. IMAGES:

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Dettagli Bibliografici
Pubblicato in:J Med Genet
Autori principali: Winship, I M, Viljoen, D L, Leary, P M, De Moor, M M
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 1991
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015794/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1956062/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.9.619
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