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Article

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Human genetics - 1 Apr 2002

Ming Jeffrey E, Kaupas Michelle E, Roessler Erich, Brunner Han G, Golabi Mahin, Tekin Mustafa, Stratton Robert F, Sujansky Eva, Bale Sherri J, Muenke Maximilian

Abstract excerpt

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. The genetic causes of HPE have recently begun to be identified, and we have previously shown that HPE can be caused by haploinsufficiency for SONIC HEDGEHOG ( SHH). We hypothesize that mutations in genes encoding other components of the...

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Identifiers

PMID: 11941477
DOI: 10.1007/s00439-002-0695-5

Genes

SHH

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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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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.PMID 11941477Read ↗

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