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Article

Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

Clinical genetics - 1 Aug 2007

Koivisto A M, Ala-Mello S, Lemmelä S, Komu H A, Rautio J, Järvelä I

Abstract excerpt

We investigated the prevalence of mutations in the PHD finger protein 8 (PHF8) gene in X-linked mental retardation (XLMR) and facial cleft starting from the original cohort of 7712 patients operated on since 1 January 1950 for cleft lip/cleft palate in the Cleft Centre at the Helsinki University Hospital. From this nationwide material, 18 patients including one family with two male patients with cleft lip/cleft...

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Source

Identifiers

PMID: 17661819
DOI: 10.1111/j.1399-0004.2007.00836.x

Genes

PHF8

Variants

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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