210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
55 citations
,
April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.