Microcephaly-cardiomyopathy: A new autosomal recessive phenotype?

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Abstract

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.

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Winship, I. M., Viljoen, D. L., Leary, P. M., & De Moor, M. M. (1991). Microcephaly-cardiomyopathy: A new autosomal recessive phenotype? Journal of Medical Genetics, 28(9), 619–621. https://doi.org/10.1136/jmg.28.9.619

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