74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
42 citations
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September 2000 in “British Journal of Dermatology” This report describes two children with congenital hypotrichosis and found their short hair is due to a shortened anagen phase, with the condition resolving spontaneously during puberty.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
11 citations
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February 1989 in “Journal of veterinary medicine. Series A” This study observed that congenital hypotrichosis in crossbred cattle is linked to short, curly, dilute-color hair, potentially due to color dilution mutants in European breeds.
7 citations
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March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.