A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2020 at "Human Genome Variation"
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
Coexistence of Gitelman Syndrome and Hypertrophic Cardiomyopathy in a Pregnant Woman.
Sign Up to like & getrecommendations! Published in 2018 at "Acta Cardiologica Sinica"
DOI: 10.6515/acs.201801_34(1).20170515a
Abstract: Gitelman syndrome (GS) is transmitted as an autosomal recessive trait and characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The symptoms and severity of the disease can vary… read more here.
Keywords: syndrome hypertrophic; coexistence gitelman; pregnant woman; cardiomyopathy ... See more keywords