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

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.

European journal of pediatrics - 1 Jul 2004

Hehr Ute, Gross Claudia, Diebold Uta, Wahl Dagmar, Beudt Ulrike, Heidemann Peter, Hehr Andreas, Mueller Dietmar

Abstract excerpt

UNLABELLED: Mutations in the human sonic hedgehog gene (SHH) are the most frequent cause of autosomal dominant inherited holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage of the developing forebrain into two separate hemispheres and ventricles. Here we report the clinical and molecular findings in five unrelated patients with HPE and their relatives with an identified SHH...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Hedgehog Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Holoprosencephaly

Share to In Situ Hybridization, Fluorescence

Share to Infant, Newborn

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Trans-Activators

Source

Identifiers

PMID: 15107988
DOI: 10.1007/s00431-004-1459-0

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

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.PMID 15107988Read ↗

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

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.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 ↗

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

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

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

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

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

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

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

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

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