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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… Click to show full 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 skewed X‐inactivation pattern in carrier women.
Keywords:
linked mental;
mental retardation;
hypotonic facies;
facies syndrome;
retardation hypotonic
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
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recommendations!