Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN

Rayinda, Tuntas and McSweeney, Sheila M. and Lalagianni, Nikolina and Liu, Lu and Guy, Alyson and Fenton, David and Stefanato, Catherine M. and Dand, Nick and McGrath, John A. and Tziotzios, Christos (2023) Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN. Clinical and Experimental Dermatology, 48 (5). pp. 579-583. ISSN 03076938

Abstract

Item Type:	Article
Additional Information:	Library Dosen
Uncontrolled Keywords:	peptides and proteins; protein corneodesmosin; unclassified drug; vitamin D; zinc; CDSN protein, human; signal peptide, adult; Article; autosomal dominant inheritance; blood examination; case report; clinical article; diagnostic test; DNA extraction; familial disease; female; gene segregation; genetic variability; hair follicle; hair pull test; heterozygosity; histopathology; human; human tissue; hypotrichosis simplex of the scalp; medical history; nonsense mutation; physical examination; saliva analysis; Sanger sequencing; scalp disease; scalp hair; trichoscopy; vitamin blood level; vitamin D deficiency; vitamin supplementation; whole exome sequencing; young adult; zinc blood level; zinc deficiency; genetics; hypotrichosis; pedigree; scalp; stop codon, Codon, Nonsense; Humans; Hypotrichosis; Hypotrichosis simplex; Intercellular Signaling Peptides and Proteins; Pedigree; Scalp
Subjects:	R Medicine > RZ Other systems of medicine
Divisions:	Faculty of Medicine, Public Health and Nursing > Non Surgical Divisions
Depositing User:	Ani PURWANDARI
Date Deposited:	15 Jul 2024 05:56
Last Modified:	15 Jul 2024 05:56
URI:	https://ir.lib.ugm.ac.id/id/eprint/773

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