Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.C255delFs
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DSG4

NM_177986.5:p.C255delFs

Associated Papers

Genetics of human isolated hereditary hair loss disorders.

Basit S et al.

Clinical Genetics, 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

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.

Zlotogorski A et al.

The Journal of Investigative Dermatology, 2006

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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."