Cargando…
Ataxia telangiectasia: A report of two cousins and review of literature
Ataxia telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder. Due to its wide clinical heterogeneity, it often leads physicians to an incorrect or missed diagnosis, and insight into this rare disease is important. Here is a case report of two cousins from the same family who...
Autores principales: | Sharma, Anjali, Buxi, Gurdeep, Yadav, Rajbala, Kohli, Ashok |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3343250/ https://www.ncbi.nlm.nih.gov/pubmed/22563157 http://dx.doi.org/10.4103/0971-5851.95145 |
Ejemplares similares
-
Myoclonus in Ataxia–Telangiectasia
por: Termsarasab, Pichet, et al.
Publicado: (2015) -
Ataxia telangiectasia: Family management
por: Seshachalam, Arun, et al.
Publicado: (2010) -
Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?
por: Aygün, Fatma Deniz, et al.
Publicado: (2015) -
Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations
por: Zaki-Dizaji, Majid, et al.
Publicado: (2020) -
Epidermolysis bullosa pruriginosa: A case report of two first cousins
por: Zahoor, Maria
Publicado: (2023)