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Article

Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

Neurobiology of disease - 1 Dec 2016

Jahani-Asl Arezu, Cheng Cheng, Zhang Chi, Bonni Azad

Abstract excerpt

Intellectual disability encompasses a large set of neurodevelopmental disorders of cognition that are more common in males than females. Although mutations in over 100 X-linked genes associated to intellectual disability have been identified, only a few X-linked intellectual disability proteins have been intensively studied. Hence, the molecular mechanisms underlying the majority of X-linked intellectual...

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Identifiers

PMID: 27633282
DOI: 10.1016/j.nbd.2016.09.011
PMCID: PMC5102843

Genes

PHF6
PAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.PMID 27633282Read ↗

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.Semantic proximity Read ↗

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Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.Semantic proximity Read ↗

Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.Semantic proximity Read ↗

PHF6 Interacts with the Nucleosome Remodeling and Deacetylation (NuRD) ComplexSemantic proximity Read ↗

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

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

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

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Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.Semantic proximity Read ↗

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