Open AccessLipoid Proteinosis Due to Homozygous Deletion Mutation (c.735delTG) in the ECM1 Gene Presents with Seizures and Hoarseness but No Skin Involvement
Author(s) -
Hassan Vahidnezhad,
Leila Youssefian,
Abbas Tafakhori,
Qiaoli Li,
Jouni Uitto,
Fatemeh Vand Rajabpour,
Morteza Pishnamazi,
Amirhossein Modabbernia,
Mina Tabrizi
Publication year - 2019
Publication title -
international journal of dermatology and venereology
Language(s) - English
Resource type - Journals
eISSN - 2641-8746
pISSN - 2096-5540
DOI - 10.1097/jd9.0000000000000056
Subject(s) - genodermatosis , macroglossia , medicine , pathology , tongue , epilepsy , global developmental delay , dermatology , genetics , biology , gene , psychiatry , phenotype