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Article

Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis.

Prenatal diagnosis - 1 Jan 2002

Chen Chih-Ping, Chern Schu-Rern, Du Shin-Hua, Wang Wayseen

Abstract excerpt

We report the sonographic diagnosis and molecular analysis of holoprosencephaly (HPE) and premaxillary agenesis in a second-trimester fetus with a 46,XY karyotype. Mutational sequence analyses for the entire coding region and exon-intron boundaries of SHH, ZIC2, SIX3 and TGIF genes identified a n...

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Source

Identifiers

PMID: 11810641
DOI: 10.1002/pd.202

Genes

SHH
SIX3
ZIC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11810641-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis.PMID 11810641Read ↗

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