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Article

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

Molecular genetics & genomic medicine - 1 Oct 2022

Shakarami Fatemeh, Jahani Mehdi, Nouri Zahra, Tabatabaiefar Mohammad Amin

Abstract excerpt

BACKGROUND: 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 skewed X-inactivation pattern in carrier women. METHOD: In this study, due to the genetic heterogeneity of the disease, we performed exome sequencing...

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Identifiers

PMID: 35962714
DOI: 10.1002/mgg3.2034
PMCID: PMC9544208

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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