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Article

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

American journal of medical genetics. Part A - 1 Dec 2012

Izumi Kosuke, Conlin Laura K, Berrodin Donna, Fincher Christopher, Wilkens Alisha, Haldeman-Englert Chad, Saitta Sulagna C, Zackai Elaine H, Spinner Nancy B, Krantz Ian D

Abstract excerpt

Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defec...

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Identifiers

PMID: 23169682
DOI: 10.1002/ajmg.a.35500

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23169682-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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