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Article

Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.

American journal of medical genetics. Part A - 1 Mar 2017

McCool Caroline, Spinks-Franklin Adiaha, Noroski Lenora M, Potocki Lorraine

Abstract excerpt

Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacial abnormalities. Current literature implicates haploinsufficiency of three genes (ALX4, EXT2, and PHF21A) in causing some of the cardinal features of PSS. We...

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Source

Identifiers

PMID: 28127865
DOI: 10.1002/ajmg.a.37988

Genes

ALX4
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.PMID 28127865Read ↗

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