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Article

Holoprosencephaly-like phenotype: clinical and genetic perspectives.

American journal of medical genetics. Part A - 1 Dec 2006

Richieri-Costa A, Ribeiro Lucilene Arilho

Abstract excerpt

We report 22 patients with normal neuropsychological development and a holoprosencephaly-like (HPE-like) phenotype screened for SHH, SIX3, TGIF, and GLI2. These patients were divided into two groups: (1) 6 patients with SHH and GLI2 mutations and (2) 16 patients with no detectable mutations. We discuss the phenotypic manifestations, evolution of the phenotype, and neuroimaging in the two groups. Conclusions about...

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Source

Identifiers

PMID: 17001669
DOI: 10.1002/ajmg.a.31378

Genes

GLI2
SHH
SIX3

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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