25 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”
The researchers identified a specific mutation in the desmoglein4gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.
26 citations
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April 2011 in “British Journal of Dermatology”
This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.