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

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

American journal of human genetics - 7 Mar 2013

Akizu Naiara, Shembesh Nuri M, Ben-Omran Tawfeg, Bastaki Laila, Al-Tawari Asma, Zaki Maha S, Koul Roshan, Spencer Emily, Rosti Rasim Ozgur, Scott Eric, Nickerson Elizabeth, Gabriel Stacey, da Gente Gilberto, Li Jiang, Deardorff Matthew A, Conlin Laura K, Horton Margaret A, Zackai Elaine H, Sherr Elliott H, Gleeson Joseph G

Abstract excerpt

The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. The development of the corpus callosum is under tight genetic control, as demonstrated by abnormalities in its development in more than 1,000 genetic syndromes. We recruited more than 25 families in which members affected with corpus callosum hypoplasia (CCH) lacked syndromic features and had consanguineous...

Read the complete abstract on PubMed

Topics

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

Share to Agenesis of Corpus Callosum
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebral Cortex

Share to Corpus Callosum

Share to Methionine

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 23453666
DOI: 10.1016/j.ajhg.2013.02.004
PMCID: PMC3591854

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

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.PMID 23453666Read ↗

Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.Semantic proximity Read ↗

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.Semantic proximity Read ↗

Fetal Corpus Callosum AnomaliesSemantic proximity Read ↗

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Semantic proximity Read ↗

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.Semantic proximity Read ↗

Genetic heterogeneity in corpus callosum agenesisSemantic proximity Read ↗

A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.Semantic proximity Read ↗

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.Semantic proximity Read ↗

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSemantic proximity Read ↗

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosumSemantic proximity Read ↗

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.Semantic proximity Read ↗

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.Semantic proximity Read ↗

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