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

Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.

European journal of medical genetics - 1 Aug 2024

Manoochehri Jamal, Shiri Amirmasoud, Khoddam Somayeh, Aghasipour Maryam, Kamal Neda, Jafari Khamirani Hossein, Dastgheib Seyed Alireza, Dianatpour Mehdi, Tabei Seyed Mohammad Bagher

Abstract excerpt

Jaberi-Elahi syndrome is an extremely rare genetic disease caused by pathogenic variants in GTPBP2. The core symptoms of this disease are intellectual disability, motor development delay, abnormal reflexes, skeletal abnormalities, and visual impairment. In this study, we describe a three-year-old girl with a novel homozygous variant in GTPBP2 and a phenotype overlapping with Jaberi-Elahi syndrome. This variant...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Exome Sequencing

Share to GTP-Binding Proteins

Share to Homozygote

Share to Intellectual Disability

Share to Mutation, Missense

Source

Identifiers

PMID: 38852771
DOI: 10.1016/j.ejmg.2024.104953

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.PMID 38852771Read ↗

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.Semantic proximity Read ↗

A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.Semantic proximity Read ↗

Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.Semantic proximity Read ↗

Clinical spectrum of individuals with de novo EBF3 variants or deletions.Semantic proximity Read ↗

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).Semantic proximity Read ↗

KBG syndrome involving a single-nucleotide duplication in ANKRD11.Semantic proximity Read ↗

A novel de novo frameshift variant in ZMYM2 expands the neuropsychiatric spectrum of NECRC syndrome: a case report.Semantic proximity Read ↗

Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.Semantic proximity Read ↗

Vici syndrome: a review.Semantic proximity Read ↗

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature reviewSemantic proximity Read ↗

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.Semantic proximity Read ↗

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