Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.P267R
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DSG4

NM_177986.5:p.P267R

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

Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.

Schaffer JV et al.

The Journal of Investigative Dermatology, 2006

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."