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Article

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

Human genetics - 1 Jan 2015

Kakar Naseebullah, Ahmad Jamil, Morris-Rosendahl Deborah J, Altmüller Janine, Friedrich Katrin, Barbi Gotthold, Nürnberg Peter, Kubisch Christian, Dobyns William B, Borck Guntram

Abstract excerpt

Holoprosencephaly is a clinically and genetically heterogeneous midline brain malformation associated with neurologic manifestations including developmental delay, intellectual disability and seizures. Although mutations in the sonic hedgehog gene SHH and more than 10 other genes are known to cau...

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Source

Identifiers

PMID: 25218063
DOI: 10.1007/s00439-014-1487-4

Genes

STIL
SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25218063-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.PMID 25218063Read ↗

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Holoprosencephaly: clinical, anatomic, and molecular dimensions.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 ↗

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The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Semantic proximity Read ↗

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