Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.A129S
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DSG4

NM_177986.5:p.A129S

Associated Papers

Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix.

Wang JM et al.

International Journal of Dermatology, 2015

A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.

Ullah A et al.

Clinical and Experimental Dermatology, 2015

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene.

Farooq M et al.

The British Journal of Dermatology, 2011

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Diseases of epidermal keratins and their linker proteins.

Uitto J et al.

Experimental Cell Research, 2007

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.

John P et al.

Archives of Dermatological Research, 2006

A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

Messenger AG et al.

The Journal of Investigative Dermatology, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."