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Article

Variable phenotypic manifestations of a K44N mutation in the TGIF gene.

Brain & development - 1 Mar 2008

Richieri-Costa Antonio, Ribeiro Lucilene Arilho

Abstract excerpt

The etiologies and clinical spectra of HPE are extremely heterogeneous. Here, we report a Brazilian boy with lobar holoprosencephaly who was ascertained in a sample of 60 patients with HPE and HPE-like phenotypes and screened for molecular analysis of the major HPE causative genes: SHH, PTCH, SIX3, GLI2, and TGIF. This boy presented a p.K44N (c.132G>T) mutation in exon 2 of the TGIF gene which was inherited from...

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Source

Identifiers

PMID: 17825514
DOI: 10.1016/j.braindev.2007.07.012

Genes

GLI2
SHH
SIX3

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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