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

DADA2 deficiency caused by new homozygous variation in 22q11.1.

Clinical and experimental rheumatology - 1 Oct 2024

Hu Jia-Qi, Cai Qing, Gao Ying, Gao Jie

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Deaminase
Share to Chromosomes, Human, Pair 22
Share to DNA Mutational Analysis
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Intercellular Signaling Peptides and Proteins

Share to Phenotype

Share to Severe Combined Immunodeficiency

Source

Identifiers

PMID: 38910582
DOI: 10.55563/clinexprheumatol/0sk81a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DADA2 deficiency caused by new homozygous variation in 22q11.1.PMID 38910582Read ↗

A Chinese DADA2 patient: report of two novel mutations and successful HSCTSemantic proximity Read ↗

A novel variant in severe disease of DADA2: involving vasculitic and haematologic features.Semantic proximity Read ↗

A Novel 22q11.2 Microdeletion in DiGeorge SyndromeSemantic proximity Read ↗

Bi-allelic FRA10AC1 variants in a multisystem human syndrome.Semantic proximity Read ↗

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disabilitySemantic proximity Read ↗

Sneddon syndrome associated with two novel ADA2 gene mutations.Semantic proximity Read ↗

A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II.Semantic proximity Read ↗

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.Semantic proximity Read ↗

Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease.Semantic proximity Read ↗

A G-to-A single nucleotide polymorphism in intron 2 of the human CACNA2D2 gene that maps at 3p21.3.Semantic proximity Read ↗

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactylySemantic proximity Read ↗

Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

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