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Article

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

American journal of medical genetics. Part A - 1 Sept 2016

Bagattoni Simone, D'Alessandro Giovanni, Sadotti Agnese, Alkhamis Nadia, Rocca Alessandro, Cocchi Guido, Krantz Ian David, Piana Gabriela

Abstract excerpt

Pallister-Killian syndrome (PKS) is a rare sporadic multi-systemic developmental disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. A wide range of clinical characteristics including intellectual disability, seizures, and congenital malformations has previously been described. Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows,...

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Identifiers

PMID: 27354242
DOI: 10.1002/ajmg.a.37815

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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