15 citations
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February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
44 citations
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January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.