A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex

Clin Exp Dermatol. 2023 Jul 7;48(7):840-843. doi: 10.1093/ced/llad102.

Authors

Tuntas Rayinda^{1

2}, Sheila M McSweeney¹, Hiva Fassihi¹, David Fenton¹, Lu Liu³, Catherine M Stefanato¹, Nick Dand⁴, John A McGrath¹, Christos Tziotzios¹

Affiliations

¹ St John's Institute of Dermatology, King's College London, UK.
² Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
³ Viapath, Guy's and St Thomas' NHS Foundation Trust, London, UK.
⁴ Department of Medical and Molecular Genetics, King's College London, London, UK.

PMID: 36929380
DOI: 10.1093/ced/llad102

No abstract available

MeSH terms

Humans
Hypotrichosis* / genetics
Mutation, Missense
Pedigree
Ribosomal Proteins

Substances

ribosomal protein L21
Ribosomal Proteins

Supplementary concepts

Hypotrichosis simplex

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