Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

6 Feb 2015

Abstract excerpt

Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been identified in HPE patients that account for only 30% of HPE cases, suggesting the existence of other HPE genes. Data from homozygosity mapping and whole-exome sequencing in a consanguineous Turkish family were combined to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Hedgehog Signaling Pathway Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25658757
DOI: 10.1371/journal.pone.0117418

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two SiblingsPMID 25658757Read ↗

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

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.Semantic proximity Read ↗

Mutations in holoprosencephaly.Semantic proximity Read ↗

Holoprosencephaly in the genomics era.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 ↗

Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly.Semantic proximity Read ↗

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.Semantic proximity Read ↗

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.Semantic proximity Read ↗

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.Semantic proximity Read ↗

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

Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and ManagementSemantic proximity Read ↗

Embryogenesis of holoprosencephaly.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.