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Article

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.

American journal of medical genetics. Part A - 1 Mar 2015

Li Mindy H, Eberhard Moriah, Mudd Pamela, Javia Luv, Zimmerman Robert, Khalek Nahla, Zackai Elaine H

Abstract excerpt

Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift/nonsense and splicing mutations in the middle third of GLI3. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with...

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Source

Identifiers

PMID: 25604768
DOI: 10.1002/ajmg.a.36915

Genes

GLI3

Variants

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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