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

Rayinda, Tuntas and McSweeney, Sheila M. and Fassihi, Hiva and Fenton, David and Liu, Lu and Stefanato, Catherine M. and Dand, Nick and McGrath, John A. and Tziotzios, Christos (2023) A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex. Clinical and Experimental Dermatology, 48 (7). pp. 840-843. ISSN 03076938

[thumbnail of A novel heterozygous missense variant in ribosomal.pdf] Text
A novel heterozygous missense variant in ribosomal.pdf
Restricted to Registered users only
Download (1MB)
Item Type: Article
Additional Information: Cited by: 0; All Open Access, Hybrid Gold Open Access
Uncontrolled Keywords: ribosomal protein l21; ribosome protein; unclassified drug; actinic keratosis; adult; alopecia; Article; autosomal dominant inheritance; basal cell carcinoma; biopsy; British citizen; case report; Caucasian; clinical article; eyebrow; eyelash; familial disease; filtration; hair follicle; hair loss; heterozygosity; human; human tissue; hypotrichosis simplex; male; medical genetics; medical history; missense mutation; phenotype; physical examination; protein structure; quality control; risk factor; Sanger sequencing; scalp; scalp disease; scar; smoking; solar elastosis; squamous cell carcinoma; sun exposure; whole exome sequencing
Subjects: R Medicine > RL Dermatology
Divisions: Faculty of Medicine, Public Health and Nursing > Dermatology and Venereology
Depositing User: Annisa Fitria Nur Azizah Annisa Fitria Nur Azizah
Date Deposited: 17 May 2024 01:11
Last Modified: 17 May 2024 01:11
URI: https://ir.lib.ugm.ac.id/id/eprint/1251

Actions (login required)

View Item
View Item