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

Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.

Molecular biology reports - 22 Jan 2024

Sarli Abdolazim, Al Sudani Zainab Mohammed, Vaghefi Fatemeh, Motallebi Farzaneh, Khosravi Teymoor, Rezaie Nahid, Oladnabi Morteza

Abstract excerpt

BACKGROUND: Primary autosomal recessive microcephaly (MCPH) is a rare developmental disorder characterized by cognitive impairment, delayed neurodevelopment, and reduced brain size. It is a genetically heterogeneous condition, and several genes have been identified as associated with MCPH. METHODS AND RESULTS: In this study, we utilized whole-exome sequencing (WES) to identify disease-causing variations in two...

Topics

Male
Humans
Microcephaly
Iran
Consanguinity
Cognitive Dysfunction
Mutant Proteins
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38252227
DOI: 10.1007/s11033-023-09136-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.PMID 38252227Read ↗

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.Semantic proximity Read ↗

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.Semantic proximity Read ↗

Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Semantic proximity Read ↗

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.Semantic proximity Read ↗

Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephalySemantic proximity Read ↗

A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.Semantic proximity Read ↗

[Clinical and genetic characterization of two Chinese children with Diencephalo-mesencephalic junction dysplasia syndrome type 1 due to compound heterozygous variants of PCDH12 gene].Semantic proximity Read ↗

Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsySemantic proximity Read ↗

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.Semantic proximity Read ↗

Genetic heterogeneity in Pakistani microcephaly families revisited.Semantic proximity Read ↗

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