Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency

Journal article

Peer reviewed

D. Monies, J. Anabrees, N. Ibrahim, H. Elbardisy, M. Abouelhoda, B.F. Meyer and F.S. Alkuraya

Clinical genetics, Vol.93(6), pp.1252-1253

06/2018

PMID: 29417556

Abstract

ceramide

collodion

glucosylceramide

ichthyosis

UGCG

UGCG:NM_003358:exon2:c.142dupA;p.(Ser48Lysfs*18).

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Title: Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency
Creators - without role: D. Monies - King Abdulaziz City for Science and Technology
J. Anabrees - Department of Pediatrics, Arrayan Hospital, Dr. Sulaiman Al Habib Medical Group, Riyadh, Saudi Arabia
N. Ibrahim - King Faisal Specialist Hospital & Research Centre
H. Elbardisy - King Faisal Specialist Hospital & Research Centre
M. Abouelhoda - King Faisal Specialist Hospital & Research Centre
B.F. Meyer - King Abdulaziz City for Science and Technology
F.S. Alkuraya - King Faisal Specialist Hospital & Research Centre
Publication Details: Clinical genetics, Vol.93(6), pp.1252-1253
Publisher: Blackwell Publishing Ltd
Number of pages: 3
Identifiers: 9918764008331
Academic Unit: King Abdulaziz City for Science & Technology; King Faisal University
Language: English
Resource Type: Journal article