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Article

A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

American journal of human genetics - 1 Feb 2000

Shashi V, Berry M N, Shoaf S, Sciote J J, Goldstein D, Hart T C

Abstract excerpt

We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose,...

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Source

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Identifiers

PMID: 10677307
DOI: 10.1086/302772
PMCID: PMC1288100

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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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