210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
55 citations
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April 2008 in “Clinical Genetics” Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome was further delineated in a study involving a female patient from a second family, who carried a novel homozygous mutation, p.M1I, in the ST14 gene. This gene encodes the serine protease matriptase. The patient exhibited congenital ichthyosis, light brown, curly, sparse hair that improved with age, and sparse body hair, eyebrows, and eyelashes. Unlike previous cases, she did not experience photophobia but had blepharitis, and her ichthyosis was milder without tooth abnormalities. This study expanded the understanding of ARIH syndrome by identifying a new mutation and comparing phenotypic variations.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
29 citations
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July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.