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Article

Holoprosencephaly-Polydactyly syndrome: in search of an etiology.

European journal of medical genetics - 1 Jan 2000

Cordero Dwight R, Bendavid Claude, Shanske Alan L, Haddad Bassem R, Muenke Maximilian

Abstract excerpt

Holoprosencephaly-Polydactyly (HPS) or Pseudotrisomy 13 syndrome are names conferred to clinically categorize patients whose phenotype is congruent with Trisomy 13 in the context of a normal karyotype. The literature suggests that this entity may be secondary to submicroscopic deletions in holopr...

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Source

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Identifiers

PMID: 18178536
DOI: 10.1016/j.ejmg.2007.08.004
PMCID: PMC2441840

Genes

DISP1
FOXA2
GLI3
SHH
SIX3
ZIC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18178536-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Holoprosencephaly-Polydactyly syndrome: in search of an etiology.PMID 18178536Read ↗

Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.Semantic proximity Read ↗

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.Semantic proximity Read ↗

"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.Semantic proximity Read ↗

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Semantic proximity Read ↗

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.Semantic proximity Read ↗

Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.Semantic proximity Read ↗

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Holoprosencephaly: clinical, anatomic, and molecular dimensions.Semantic proximity Read ↗

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