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Article

Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.

Fetal and pediatric pathology - 1 Oct 2012

Sergi Consolato, Gekas Jean, Kamnasaran Deepak

Abstract excerpt

We report a new case of a fetus with holoprosencephaly-polydactyly syndrome, also known as pseudo-trisomy 13 syndrome, and no other apparent abnormalities except for septal agenesis of the left lung. The fetal karyotype was normal. Mutational analysis of five genes (SHH, SIX3, TGIF, ZIC2, and GLI3), which are major genes associated with holoprosencephaly, did not disclose any mutational findings. We therefore...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22432933
DOI: 10.3109/15513815.2012.659390

Genes

GLI3
SHH
SIX3
ZIC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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