TY  - GEN
AU  - Wang,H J
AU  - Tang,Z L
AU  - Lin,Z M
AU  - Dai,L L
AU  - Chen,Q
AU  - Yang,Y
TI  - Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient
SN  - 1365-2230
PY  - 2014///1027
KW  - Alopecia
KW  - genetics
KW  - Facial Dermatoses
KW  - Humans
KW  - Ichthyosis
KW  - Introns
KW  - Keratosis
KW  - Male
KW  - Metalloendopeptidases
KW  - Mutation
KW  - Nails, Malformed
KW  - Photophobia
KW  - RNA Splice Sites
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/ced.12248
ER  -