Dyskeratosis Congenita and Short Telomeres in a Female Patient
Dyskeratosis Congenita (DC) is a hereditary and multisystemic syndrome, with heterogeneous clinical and genetic manifestations, characterized as a disease associated with maintenance of defects and early telomere shortening. It is a rare condition, with an estimated annual incidence of 1 in 1 milli...
Main Authors: | Virgínia Vinha Zanuncio, Kelvin Oliveira Rocha |
---|---|
Format: | Article |
Language: | English |
Published: |
Sociedade Portuguesa de Dermatologia e Venereologia
2020-12-01
|
Series: | Revista da Sociedade Portuguesa de Dermatologia e Venereologia |
Subjects: | |
Online Access: | https://revista.spdv.com.pt/index.php/spdv/article/view/1230 |
Similar Items
-
Dyskeratosis congenita
by: Lorenzo Gitto, et al.
Published: (2021-08-01) -
A Vietnamese case of dyskeratosis congenita
by: Phuong Hoang Thi
Published: (2018-07-01) -
Tissue-specific telomere shortening and degenerative changes in a patient with TINF2 mutation and dyskeratosis congenita
by: Caitlin M. Roake, et al.
Published: (2021-09-01) -
Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family
by: Caixia He, et al.
Published: (2019-07-01) -
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives
by: Payal P. Khincha, et al.
Published: (2017-08-01)