A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
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DOI: 10.1038/s41439-020-00110-0
Abstract: NAA10-related syndrome is an extremely rare X-chromosomal disorder, the symptoms of which include intellectual disability (ID), ocular anomalies, or congenital heart diseases, such as hypertrophic cardiomyopathy (HCM). Here, we describe a 4-year-old Japanese male patient… read more here.
Keywords: syndrome hypertrophic; related syndrome; boy naa10; hypertrophic cardiomyopathy ... See more keywords