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Article

Cardiac manifestations of Pallister-Killian syndrome.

American journal of medical genetics. Part A - 1 May 2014

Tilton Richard K, Wilkens Alisha, Krantz Ian D, Izumi Kosuke

Abstract excerpt

Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. Although congenital heart defects have been described in association with...

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Identifiers

PMID: 24504854
DOI: 10.1002/ajmg.a.36413

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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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