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

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

American journal of medical genetics. Part A - 1 Jul 2024

Khalaf-Nazzal Reham, Dweikat Imad, Ubeyratna Nishanka, Fasham James, Alawneh Maysa, Leslie Joseph, Maree Mosab, Gunning Adam, Zayed Deyala Z, Voutsina Nikol, McGavin Lucy, Sawafta Reem, Owens Martina, Baker Wisam, Turnpenny Peter, Al-Hijawi Fida', Baple Emma L, Crosby Andrew H, Rawlins Lettie E

Abstract excerpt

Due to the majority of currently available genome data deriving from individuals of European ancestry, the clinical interpretation of genomic variants in individuals from diverse ethnic backgrounds remains a major diagnostic challenge. Here, we investigated the genetic cause of a complex neurodevelopmental phenotype in two Palestinian siblings. Whole exome sequencing identified a homozygous missense TECPR2...

Read the complete abstract on PubMed

Topics

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

Share to Pedigree
Share to Arabs

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Hereditary Sensory and Autonomic Neuropathies

Share to Homozygote

Share to Middle East

Share to Mutation, Missense

Share to Siblings

Source

Identifiers

PMID: 38436550
DOI: 10.1002/ajmg.a.63579

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.PMID 38436550Read ↗

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.Semantic proximity Read ↗

Clinical, neuroimaging and molecular spectrum of <i>TECPR2</i>-associated hereditary sensory and autonomic neuropathy with intellectual disabilitySemantic proximity Read ↗

Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Semantic proximity Read ↗

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.Semantic proximity Read ↗

Clinical and genetic spectrum of congenital myasthenic syndromes in Palestine: a retrospective cohort of 35 genetically confirmed patientsSemantic proximity Read ↗

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilitySemantic proximity Read ↗

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.Semantic proximity Read ↗

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.Semantic proximity Read ↗

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.Semantic proximity Read ↗

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.Semantic proximity Read ↗

Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.Semantic proximity Read ↗

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients.Semantic proximity Read ↗

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