Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis

Br J Dermatol. 2018 Nov;179(5):1214-1215. doi: 10.1111/bjd.16999. Epub 2018 Sep 20.

Authors

S Polubothu^{1

2}, M Glover², S E Holder³, V A Kinsler^{1

2}

Affiliations

¹ Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, U.K.
² Paediatric Dermatology, Great Ormond Street Hospital for Children, London, WC1N 3JH, U.K.
³ North West Thames Regional Genetics Service, Kennedy Galton Centre, London, HA1 3UJ, U.K.

No abstract available

Publication types

Case Reports

MeSH terms

Child
Chromosomes, Human, Pair 15 / genetics
DNA Mutational Analysis
Female
Genes, Recessive / genetics*
Homozygote
Humans
Ichthyosis, Lamellar / diagnosis
Ichthyosis, Lamellar / genetics*
Prader-Willi Syndrome / diagnosis
Prader-Willi Syndrome / genetics*
Sphingosine N-Acyltransferase / genetics*
Uniparental Disomy*

Substances

CERS3 protein, human
Sphingosine N-Acyltransferase