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

Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.

Birth defects research - 1 Aug 2020

Gass Jennifer M, Head Barbara B, Shields Sally M, Stevenson Roger E, Louie Raymond J

Abstract excerpt

BACKGROUND: Hydrocephalus is characterized by increased cerebrospinal fluid within the brain, a causally heterogeneous disorder estimated to affect 1 per 1,000 live births, with the most severe cases often leading to fetal demise. The large number of known genetic and environmental factors that contribute to hydrocephalus makes the differential diagnosis challenging. CASES: Three consecutive pregnancies of an...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Fetus
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrocephalus

Share to Mutation

Share to Pregnancy

Source

Identifiers

PMID: 32347653
DOI: 10.1002/bdr2.1699

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.PMID 32347653Read ↗

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.Semantic proximity Read ↗

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.Semantic proximity Read ↗

[Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene].Semantic proximity Read ↗

Functional Characterization of a missense mutation in the TRAPPC12 gene presenting with progressive encephalopathy with brain atrophy and spasticity phenotype without microcephaly and epilepsySemantic proximity Read ↗

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.Semantic proximity Read ↗

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.Semantic proximity Read ↗

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Semantic proximity Read ↗

The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvementSemantic proximity Read ↗

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impactSemantic proximity Read ↗

Genetics and Molecular Pathogenesis of Human HydrocephalusSemantic proximity Read ↗

Mutation in MPDZ causes severe congenital hydrocephalus.Semantic proximity Read ↗

The Genetic Basis of Hydrocephalus.Semantic proximity Read ↗

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