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A novel missense mutation of the STS gene in two siblings with X‐linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism
Author(s) -
Ohyama A.,
Nakano H.,
Imanishi Y.,
Seto T.,
Tsuruta D.,
Fukai K.
Publication year - 2019
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13741
Subject(s) - missense mutation , short stature , ichthyosis , medicine , mutation , epilepsy , genetics , dermatology , gene , pediatrics , biology , psychiatry
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