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

X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.

American journal of medical genetics. Part A - 1 Jan 2014

Bissar-Tadmouri Nesrine, Donahue Whithey L, Al-Gazali Lihadh, Nelson Stanley F, Bayrak-Toydemir Pinar, Kantarci Sibel

Abstract excerpt

X-linked intellectual disability (XLID) is a heterogeneous condition associated with mutations in >100 genes, accounting for over 10% of all cases of intellectual impairment. The majority of XLID cases show nonsyndromic forms (NSXLID), in which intellectual disability is the sole clinically consistent manifestation. Here we performed X chromosome exome (X-exome) sequencing to identify the causative mutation in an...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, X
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, X-Linked

Share to Intellectual Disability

Share to Mutation, Missense

Share to N-Acetylglucosaminyltransferases

Share to Sex Factors

Share to Siblings

Source

Identifiers

PMID: 24501762
DOI: 10.1002/ajmg.a.36233

Genes

ALG13

Variants

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

X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.PMID 24501762Read ↗

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.Semantic proximity Read ↗

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.Semantic proximity Read ↗

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.Semantic proximity Read ↗

Four families with X-linked intellectual disability affected males: Novel deleterious variants and clinical features with the review of literatureSemantic proximity Read ↗

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.Semantic proximity Read ↗

Next-generation sequencing in X-linked intellectual disability.Semantic proximity Read ↗

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.Semantic proximity Read ↗

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.Semantic proximity Read ↗

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.Semantic proximity Read ↗

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.Semantic proximity Read ↗

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.Semantic proximity Read ↗

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.Semantic proximity Read ↗

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