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Article

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

American journal of medical genetics. Part A - 15 Mar 2003

Turner Gillian, Gedeon Agi, Kerr Bronwyn, Bennett Rachael, Mulley John, Partington Michael

Abstract excerpt

An X-linked recessive syndromic form of mental retardation is described in a family in which 10 males in four generations were affected. The main manifestations were severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, and difficult, aggressive behavior. There was a moderate reduction both in occipitofrontal circumference (OFC) and height and a similar facial appearance,...

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PMID: 12599187
DOI: 10.1002/ajmg.a.10005

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GRPR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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