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Article

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.

American journal of medical genetics. Part A - 1 Jul 2010

Ribeiro Lucilene Arilho, Quiezi Rodrigo Gonçalves, Nascimento Adriana, Bertolacini Claudia Pereira, Richieri-Costa Antonio

Abstract excerpt

Holoprosencephaly (HPE) is genetically heterogeneous. Variable phenotypic manifestations within families with normal and affected patients have been attributed to the number and type of HPE gene mutations. Environmental agents may also contribute to the severity as well as the requirement of multiple hits. Clinical expression is extremely variable ranging from minor facial signs to complex craniofacial anomalies...

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Source

Identifiers

PMID: 20583177
DOI: 10.1002/ajmg.a.33466

Genes

GAS1
SHH
GLI2
PTCH1
SIX3
ZIC2

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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