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Article

Genitourinary malformations as a feature of the Pallister-Hall syndrome.

Clinical dysmorphology - 1 Apr 2006

McCann Emma, Fryer Alan E, Craigie Ross, Baillie Colin, Ba'ath Muhammed E, Selby Andrew, Biesecker Leslie G

Abstract excerpt

Pallister-Hall and McKusick-Kaufman syndromes are developmental disorders with well defined phenotypes, distinct loci and different patterns of inheritance. The clinical features can overlap and may cause diagnostic difficulty, particularly if complex genitourinary malformations are present. A case is presented with features of both syndromes but in which a GLI3 mutation has been identified. A literature review...

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Source

Identifiers

PMID: 16531732
DOI: 10.1097/01.mcd.0000184972.76657.e1

Genes

GLI3

Provenance

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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