Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

doi:10.1016/j.ajhg.2012.05.005

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Article

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

American journal of human genetics - 13 Jul 2012

Kim Hyung-Goo, Kim Hyun-Taek, Leach Natalia T, Lan Fei, Ullmann Reinhard, Silahtaroglu Asli, Kurth Ingo, Nowka Anja, Seong Ihn Sik, Shen Yiping, Talkowski Michael E, Ruderfer Douglas, Lee Ji-Hyun, Glotzbach Caron, Ha Kyungsoo, Kjaergaard Susanne, Levin Alex V, Romeike Bernd F, Kleefstra Tjitske, Bartsch Oliver, Elsea Sarah H, Jabs Ethylin Wang, MacDonald Marcy E, Harris David J, Quade Bradley J, Ropers Hans-Hilger, Shaffer Lisa G, Kutsche Kerstin, Layman Lawrence C, Tommerup Niels, Kalscheuer Vera M, Shi Yang, Morton Cynthia C, Kim Cheol-Hee, Gusella James F

Abstract excerpt

Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual gen...

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Identifiers

PMID: 22770980
DOI: 10.1016/j.ajhg.2012.05.005
PMCID: PMC3397276

Genes

BRAF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22770980-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.PMID 22770980Read ↗

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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.Semantic proximity Read ↗

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.Semantic proximity Read ↗

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