Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.

Wang, H J

Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. [electronic resource] - Clinical and experimental dermatology Mar 2014 - 158-61 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1365-2230

10.1111/ced.12248 doi


Alopecia--genetics
Facial Dermatoses--genetics
Humans
Ichthyosis--genetics
Introns--genetics
Keratosis--genetics
Male
Metalloendopeptidases--genetics
Mutation
Nails, Malformed--genetics
Photophobia--genetics
RNA Splice Sites--genetics
Young Adult