A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View

Sanaz Amin Guldmann; Anna Byrjalsen; Saher Shaker; Jesper Elberling

doi:10.2340/actadv.v102.919

A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View

Sanaz Amin Guldmann, Anna Byrjalsen, Saher Shaker, Jesper Elberling

5 Citationer (Scopus)

Originalsprog	Engelsk
Artikelnummer	adv00710
Tidsskrift	Acta Dermato-Venereologica
Vol/bind	102
Sider (fra-til)	adv00710
ISSN	0001-5555
DOI	https://doi.org/10.2340/actadv.v102.919
Status	Udgivet - 10 maj 2022

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10.2340/actadv.v102.919

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Citationsformater

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title = "A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View",

keywords = "DNA Helicases/genetics, Dyskeratosis Congenita/diagnosis, Humans, Intellectual Disability, Telomere",

author = "{Amin Guldmann}, Sanaz and Anna Byrjalsen and Saher Shaker and Jesper Elberling",

year = "2022",

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T1 - A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita

T2 - A Dermatological View

AU - Amin Guldmann, Sanaz

AU - Byrjalsen, Anna

AU - Shaker, Saher

AU - Elberling, Jesper

PY - 2022/5/10

Y1 - 2022/5/10

KW - DNA Helicases/genetics

KW - Dyskeratosis Congenita/diagnosis

KW - Humans

KW - Intellectual Disability

KW - Telomere

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M3 - Journal article

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VL - 102

SP - adv00710

JO - Acta Dermato-Venereologica

JF - Acta Dermato-Venereologica

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