Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant

Br J Dermatol. 2020 Mar;182(3):792-794. doi: 10.1111/bjd.18594. Epub 2019 Nov 27.

Authors

Y Wang¹, L Dupuis¹, R Jobling¹, P Kannu^{1

2}

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
² Program in Developmental and Stem Cell Biology, University of Toronto, Toronto, ON, Canada.

PMID: 31587267
DOI: 10.1111/bjd.18594

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Ectodermal Dysplasia* / genetics
Humans
Ubiquitin-Activating Enzymes

Substances

UBA2 protein, human
Ubiquitin-Activating Enzymes