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Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Author(s) -
Vornweg J.,
Gläser S.,
AhmadAnwar M.,
Zimmer A.D.,
Kuhn M.,
Hörer S.,
Korenke G.C.,
Grothaus J.,
Ott H.,
Fischer J.
Publication year - 2021
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.19815
Subject(s) - ichthyosis , compound heterozygosity , keratitis , identification (biology) , congenital ichthyosis , medicine , genetics , mutation , hearing loss , dermatology , biology , audiology , gene , botany
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