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Article

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

Journal of medical genetics - 1 Oct 2004

Vallée D, Chevrier E, Graham G E, Lazzaro M A, Lavigne P A, Hunter A G, Picketts D J

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Identifiers

PMID: 15466013
DOI: 10.1136/jmg.2004.020370
PMCID: PMC1735599

Genes

PHF6

Provenance

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Related research

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A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.PMID 15466013Read ↗

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.Semantic proximity Read ↗

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.Semantic proximity Read ↗

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

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.Semantic proximity Read ↗

[A case of Börjeson-Forssman-Lehmann syndrome caused by PHF6 gene mutation].Semantic proximity Read ↗

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.Semantic proximity Read ↗

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.Semantic proximity Read ↗

The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)Semantic proximity Read ↗

Distinct phenotype of PHF6 deletions in females.Semantic proximity Read ↗

Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.Semantic proximity Read ↗

T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.Semantic proximity Read ↗

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

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