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

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).

International journal of dermatology - 1 Jul 2021

Tang Min Moon, Surana Uttam, Leong Kin F, Pramano Zacharias Aloysius Dwi

Abstract excerpt

No abstract is available from the source.

Topics

Join the communities discussing this publication.

Child
Connexin 26
Connexins
Deafness
Hearing Loss, Sensorineural
Ichthyosis
Keratitis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Source

Identifiers

PMID: 33728648
DOI: 10.1111/ijd.15523

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 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

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).PMID 33728648Read ↗

A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.Semantic proximity Read ↗

Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.Semantic proximity Read ↗

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.Semantic proximity Read ↗

Missense Variants Within GJB2 Gene Locus and the Risk of Hearing Defects in Nonsyndromic Cleft Lip and Palate.Semantic proximity Read ↗

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.Semantic proximity Read ↗

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.Semantic proximity Read ↗

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.Semantic proximity Read ↗

Novel variant in the KCNK9 gene in a girl with Birk Barel syndromeSemantic proximity Read ↗

Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centreSemantic proximity Read ↗

The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.Semantic proximity Read ↗

Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.Semantic proximity Read ↗

Unusual features in a boy with the rapsyn N88K mutation.Semantic proximity Read ↗

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