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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

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 33728648
DOI: 10.1111/ijd.15523

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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 ↗

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