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

Tuntas Rayinda; Sheila M. McSweeney; Hiva Fassihi; David Fenton; Lu Liu; Catherine M. Stefanato; Nick Dand; John A. McGrath; Christos Tziotzios

doi:10.1093/ced/llad102

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

Tuntas Rayinda
, Sheila M. McSweeney
, Hiva Fassihi
, David Fenton
, Lu Liu
, Catherine M. Stefanato
, Nick Dand
, John A. McGrath
, Christos Tziotzios

Department of Dermatology

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Original language	English
Pages (from-to)	840-843
Number of pages	4
Journal	Clinical and Experimental Dermatology
Volume	48
Issue number	7
DOIs	https://doi.org/10.1093/ced/llad102
Publication status	Published - 2023 Jul

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

All Science Journal Classification (ASJC) codes

Dermatology

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10.1093/ced/llad102

Cite this

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title = "A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex",

author = "Tuntas Rayinda and McSweeney, \{Sheila M.\} and Hiva Fassihi and David Fenton and Lu Liu and Stefanato, \{Catherine M.\} and Nick Dand and McGrath, \{John A.\} and Christos Tziotzios",

year = "2023",

month = jul,

doi = "10.1093/ced/llad102",

language = "English",

volume = "48",

pages = "840--843",

journal = "Clinical and Experimental Dermatology",

issn = "0307-6938",

publisher = "Oxford University Press",

number = "7",

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TY - JOUR

T1 - A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex

AU - Rayinda, Tuntas

AU - McSweeney, Sheila M.

AU - Fassihi, Hiva

AU - Fenton, David

AU - Liu, Lu

AU - Stefanato, Catherine M.

AU - Dand, Nick

AU - McGrath, John A.

AU - Tziotzios, Christos

PY - 2023/7

Y1 - 2023/7

UR - https://www.scopus.com/pages/publications/85181238070

UR - https://www.scopus.com/pages/publications/85181238070#tab=citedBy

U2 - 10.1093/ced/llad102

DO - 10.1093/ced/llad102

M3 - Article

C2 - 36929380

AN - SCOPUS:85181238070

SN - 0307-6938

VL - 48

SP - 840

EP - 843

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

IS - 7

ER -

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

UN SDGs

All Science Journal Classification (ASJC) codes

Access to Document

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