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Article

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

Cold Spring Harbor molecular case studies - 1 Nov 2016

Webster Emily, Cho Megan T, Alexander Nora, Desai Sonal, Naidu Sakkubai, Bekheirnia Mir Reza, Lewis Andrea, Retterer Kyle, Juusola Jane, Chung Wendy K

Abstract excerpt

Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has...

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Source

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Identifiers

PMID: 27900362
DOI: 10.1101/mcs.a001172
PMCID: PMC5111011

Genes

PHIP
DDB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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