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Article

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

Journal of medical genetics - 1 Mar 2006

Crawford J, Lower K M, Hennekam R C M, Van Esch H, Mégarbané A, Lynch S A, Turner G, Gécz J

Abstract excerpt

BACKGROUND: Börjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in PHF6, a novel zinc finger gene of unknown function. OBJECTIVE: To present the results of mutation screening in individuals referred for PHF6 testing and discuss the value of prior X-inactivation testing in the mothers of these individuals. RESULTS: 25 unrelated individuals were...

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Source

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Identifiers

PMID: 15994862
DOI: 10.1136/jmg.2005.033084
PMCID: PMC2563250

Genes

PHF6

Variants

Provenance

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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