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Article

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

Journal of medical genetics - 1 Jul 1997

Strain L, Wright A F, Bonthron D T

Abstract excerpt

In 1972, Fried described a large Scottish family affected by X linked mental retardation (XLMR), hydrocephalus, and mild facial dysmorphism. The phenotype has considerable similarity to the MASA syndrome, which results from mutations of the L1CAM gene in Xq28, and this family has since been assumed to be an example of this condition. We have reinvestigated the family for linkage to X chromosome markers, and...

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Identifiers

PMID: 9222959
DOI: 10.1136/jmg.34.7.535
PMCID: PMC1050991

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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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