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

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Nature genetics - 1 Nov 1996

Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell H F, Donis-Keller H, Helms C, Hing A V, Heng H H, Koop B, Martindale D, Rommens J M, Tsui L C, Scherer S W

Abstract excerpt

Holoprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and midface, with an incidence of 1:16,000 live born and 1:250 induced abortions. This disorder is associated with several distinct facies and phenotypic variability: in the mo...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to Cloning, Molecular

Share to Molecular Sequence Data

Share to Phenotype

Share to Restriction Mapping

Source

Identifiers

PMID: 8896571
DOI: 10.1038/ng1196-353

Genes

SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8896571-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.PMID 8896571Read ↗

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.Semantic proximity Read ↗

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.Semantic proximity Read ↗

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.Semantic proximity Read ↗

Holoprosencephaly: a paradigm for the complex genetics of brain development.Semantic proximity Read ↗

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.Semantic proximity Read ↗

Genetic approaches to understanding brain development: Holoprosencephaly as a modelSemantic proximity Read ↗

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.Semantic proximity Read ↗

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.Semantic proximity Read ↗

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.Semantic proximity Read ↗

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.Semantic proximity Read ↗

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.Semantic proximity Read ↗

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.Semantic proximity Read ↗

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