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Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency
Author(s) -
Monies D.,
Anabrees J.,
Ibrahim N.,
Elbardisy H.,
Abouelhoda M.,
Meyer B.F.,
Alkuraya F.S.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13180
Subject(s) - ichthyosis , ceramide , glucosyltransferase , congenital ichthyosis , medicine , endocrinology , biology , genetics , chemistry , gene , apoptosis
UGCG:NM_003358:exon2:c.142dupA;p.(Ser48Lysfs*18).
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