Cargando…
DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome
Autores principales: | Boufleur, Karine, Scrideli, Carlos Alberto, Valera, Elvis, Tone, Luiz, Vulliamy, Tom, Arruda, L Karla, Roxo Jr, Persio |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
World Allergy Organization
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407155/ http://dx.doi.org/10.1186/1939-4551-8-S1-A209 |
Ejemplares similares
-
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
por: Chu, Chia-Mei, et al.
Publicado: (2022) -
Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins
por: Olivieri, Cristina, et al.
Publicado: (2017) -
Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome
por: Zhang, Ming‐Jie, et al.
Publicado: (2021) -
Complications for a Hoyeraal–Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation
por: Chen, Rong-Long, et al.
Publicado: (2019) -
Diminished Telomeric 3′ Overhangs Are Associated with Telomere Dysfunction in Hoyeraal-Hreidarsson Syndrome
por: Lamm, Noa, et al.
Publicado: (2009)