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

Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.

Archives of disease in childhood - 1 Apr 2002

Heussler H S, Suri M, Young I D, Muenke M

Abstract excerpt

Holoprosencephaly (HPE) is a clinically variable and genetically heterogeneous central nervous system (CNS) malformation. Alobar HPE, which is its most severe form, is associated with a poor prognosis. At the milder end of the HPE spectrum microcephaly, hypotelorism, and single central maxillary incisor may be recognised. Currently, four genes have been identified for this condition. These include Sonic Hedgehog...

Read the complete abstract on PubMed

Topics

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

Share to Attention Deficit Disorder with Hyperactivity
Share to SHH gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hedgehog Proteins

Share to Holoprosencephaly

Share to Infant

Share to Mutation

Share to Pedigree

Share to Trans-Activators

Source

Open in PubMed Open full text

Identifiers

PMID: 11919111
DOI: 10.1136/adc.86.4.293
PMCID: PMC1719149

Genes

SHH

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.PMID 11919111Read ↗

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

Mutations in the human Sonic Hedgehog gene cause 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 ↗

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

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

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

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

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.Semantic proximity Read ↗

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