Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis

Alexandros Onoufriadis; N ahmed; H Besser; A Guy; Lu Liu; A Marantzidis; Evangelia Kesidou; Marieta Papanikolaou; Michael Andrew Simpson; Jemima Mellerio; John William Lee; John Alexander McGrath

Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis

Alexandros Onoufriadis, N ahmed, H Besser, A Guy, Lu Liu, A Marantzidis, Evangelia Kesidou, Marieta Papanikolaou, Michael Andrew Simpson, Jemima Mellerio, John William Lee, John Alexander McGrath

GSTT Guy's and St Thomas' NHS Foundation Trust

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

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Original language	English
Journal	Journal of Investigative Dermatology
Publication status	Accepted/In press - 16 Oct 2019

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JID Author accepted Honozygous nonsense mutation in DSC3 Oct 2019

Cite this

@article{9d9507bfed744623a6e310d314459789,

title = "Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis",

author = "Alexandros Onoufriadis and N ahmed and H Besser and A Guy and Lu Liu and A Marantzidis and Evangelia Kesidou and Marieta Papanikolaou and Simpson, {Michael Andrew} and Jemima Mellerio and Lee, {John William} and McGrath, {John Alexander}",

year = "2019",

month = oct,

day = "16",

language = "English",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis

AU - Onoufriadis, Alexandros

AU - ahmed, N

AU - Besser, H

AU - Guy, A

AU - Liu, Lu

AU - Marantzidis, A

AU - Kesidou, Evangelia

AU - Papanikolaou, Marieta

AU - Simpson, Michael Andrew

AU - Mellerio, Jemima

AU - Lee, John William

AU - McGrath, John Alexander

PY - 2019/10/16

Y1 - 2019/10/16

M3 - Article

SN - 0022-202X

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

ER -