A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. [electronic resource]
- Journal of medical genetics Oct 2015
- 676-80 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2015-103255 doi
Child Child, Preschool Consanguinity Hair--abnormalities Hair Diseases--genetics Humans Keratins, Type I--genetics Male Mutation, Missense Pakistan Pedigree Sequence Analysis, DNA