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Article

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.

Brain & development - 1 Mar 2010

Bertolacini Claudia Danielli Pereira, Richieri-Costa Antonio, Ribeiro-Bicudo Lucilene Arilho

Abstract excerpt

Holoprosencephaly (HPE) is a malformation sequence where the cerebral hemispheres fail to separate into distinct left and right halves. It can be associated with midline structural anomalies of the central nervous system and/or face. SHH is the major gene implicated in HPE and it plays a critical role in early forebrain and central nervous system development. SHH is expressed in the human embryo in the notochord,...

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Source

Identifiers

PMID: 19398181
DOI: 10.1016/j.braindev.2009.02.014

Genes

SHH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.PMID 19398181Read ↗

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