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Article

PHIP gene variants with protein modeling, interactions, and clinical phenotypes.

American journal of medical genetics. Part A - 1 Feb 2022

Dietrich Jordan, Lovell Scott, Veatch Olivia J, Butler Merlin G

Abstract excerpt

Variants in the pleckstrin homology domain-interacting protein (PHIP) gene are implicated in the clinical phenotype of Chung-Jansen syndrome, which includes dysmorphic features, cognitive dysfunction, aberrant behavior, and childhood onset obesity. Following a systematic literature review, 35 patients are reported to have unique PHIP variants impacting the encoded protein product. We summarize the status and...

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PMID: 34773373
DOI: 10.1002/ajmg.a.62557

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