Articles with "retardation hypotonic" as a keyword



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X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene

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Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2034

Abstract: X‐linked mental retardation‐hypotonic facies syndrome‐1 (MRXFH1), caused by a mutation in the ATRX gene, is a rare syndromic form of X‐linked mental retardation (XLMR) that is mainly characterized by severe intellectual disability, dysmorphic facies, and… read more here.

Keywords: linked mental; mental retardation; hypotonic facies; facies syndrome ... See more keywords