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Article

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

Clinical genetics - 1 Jul 2007

Abidi F E, Miano M G, Murray J C, Schwartz C E

Abstract excerpt

Recently, two truncating mutations in the PHF8 (plant homeodomain finger protein 8) gene have been found to cause X-linked mental retardation associated with cleft lip/cleft palate (CL/P). One of the truncating mutations was found in the original family with Siderius-Hamel CL/P syndrome where only two of the three affected individuals had mental retardation (MR) with CL/P and one individual had mild MR. The...

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Source

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Identifiers

PMID: 17594395
DOI: 10.1111/j.1399-0004.2007.00817.x
PMCID: PMC2570350

Genes

PHF8

Provenance

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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A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.PMID 17594395Read ↗

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A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.Semantic proximity Read ↗

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<i>PHF6</i> Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in FemalesSemantic proximity Read ↗

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