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Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13807
Abstract: We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg),…
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Keywords:
missense variants;
variants rap1b;
syndromic thrombocytopenia;
rap1b gene ... See more keywords