TY  - GEN
AU  - Ansar,Muhammad
AU  - Raza,Syed Irfan
AU  - Lee,Kwanghyuk
AU  - Shahi,Shamim
AU  - Acharya,Anushree
AU  - Dai,Hang
AU  - Smith,Joshua D
AU  - Shendure,Jay
AU  - Bamshad,Michael J
AU  - Nickerson,Deborah A
AU  - Santos-Cortez,Regie Lyn P
AU  - Ahmad,Wasim
AU  - Leal,Suzanne M
TI  - A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
SN  - 1468-6244
PY  - 2017///0118
KW  - Child
KW  - Child, Preschool
KW  - Consanguinity
KW  - Hair
KW  - abnormalities
KW  - Hair Diseases
KW  - genetics
KW  - Humans
KW  - Keratins, Type I
KW  - Male
KW  - Mutation, Missense
KW  - Pakistan
KW  - Pedigree
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2015-103255
ER  -