Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.S680insFs
Back to variants list

DSG4

NM_177986.5:p.S680insFs

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

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

Shimomura Y et al.

The Journal of Investigative Dermatology, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."