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Article

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Human molecular genetics - 1 Dec 1999

Nanni L, Ming J E, Bocian M, Steinhaus K, Bianchi D W, Die-Smulders C, Giannotti A, Imaizumi K, Jones K L, Campo M D, Martin R A, Meinecke P, Pierpont M E, Robin N H, Young I D, Roessler E, Muenke M

Abstract excerpt

Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mut...

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Source

Identifiers

PMID: 10556296
DOI: 10.1093/hmg/8.13.2479

Genes

SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10556296-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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