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

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome

3 Nov 2015

Abstract excerpt

BACKGROUND: Pituitary stalk interruption syndrome (PSIS) and holoprosencephaly (HPE) are congenital midline defects. Rare mutations in the sonic hedgehog (SHH) signaling gene CDON have recently been reported in patients with HPE. OBJECTIVE: To report a unique case of PSIS with a maternally inherited nonsense mutation in the SHH signaling protein CDON. METHOD: We performed exome sequencing on a case of PSIS....

Read the complete abstract on PubMed

Topics

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

Share to Genetic and Kidney Cyst Diseases
Share to Hedgehog Signaling Pathway Studies
Share to Pituitary Gland Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26529631
DOI: 10.1210/jc.2015-2995

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

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption SyndromePMID 26529631Read ↗

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.Semantic proximity Read ↗

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.Semantic proximity Read ↗

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.Semantic proximity Read ↗

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric studySemantic proximity Read ↗

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.Semantic proximity Read ↗

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.Semantic proximity Read ↗

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.Semantic proximity Read ↗

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.Semantic proximity Read ↗

Relatively high frequency of non‐synonymous GLI 2 variants in patients with congenital hypopituitarism without holoprosencephalySemantic proximity Read ↗

Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis.Semantic proximity Read ↗

Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without HoloprosencephalySemantic proximity Read ↗

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

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