A novel homozygous splice site variant in <scp><i>CERS3</i></scp> causes autosomal recessive congenital ichthyosis-Reference-Cited by-同舟云学术

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A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis

Published:2023-05 Issue:4 Volume:63 Page:127-128
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Jan Hamadia¹,Wasif Naveed²³,Naqvi Syed Kamran‐ul‐Hassan⁴,Ullah Imran¹,Ahmad Wasim¹^ORCID

Affiliation:

1. Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Islamabad Pakistan

2. Institute of Human Genetics Ulm University and Ulm University Medical Center Ulm Germany

3. Institute of Human Genetics University Hospital Schleswig‐Holstein Kiel Germany

4. Department of Biosciences COMSATS University Islamabad Islamabad Pakistan

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12518

Reference5 articles.

1. Whole‐exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein

2. Ceramide synthases at the centre of sphingolipid metabolism and biology

3. Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

4. Thematic review series: Skin Lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis

5. Omega-O-acylceramide, a lipid essential for mammalian survival

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