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

All Science Journal Classification (ASJC) codes

Dermatology

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10.1093/ced/llad102

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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 = "Wiley-Blackwell",

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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

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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

All Science Journal Classification (ASJC) codes

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