A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View
Acta Derm Venereol
.
2022 May 10:102:adv00710.
doi: 10.2340/actadv.v102.919.
Authors
Sanaz Amin Guldmann
1
,
Anna Byrjalsen
,
Saher Shaker
,
Jesper Elberling
Affiliation
1
Department of Dermatology and Allergy, Copenhagen University Hospital, Herlev and Gentofte, Gentofte Hospitalsvej 1, DK-2900 Hellerup, Denmark. sanaz.nds@gmail.com.
PMID:
35199181
PMCID:
PMC9631271
DOI:
10.2340/actadv.v102.919
No abstract available
MeSH terms
DNA Helicases / genetics
Dyskeratosis Congenita* / diagnosis
Dyskeratosis Congenita* / genetics
Humans
Intellectual Disability*
Telomere
Substances
RTEL1 protein, human
DNA Helicases