Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India

Germline ATM gene variations result in phenotypic heterogeneity characterized by a variable degree of disease severity. We retrospectively collected clinical, genetic, and immunological data of 26 cases with A-T. Clinical manifestations included oculocutaneous telangiectasia (100%), ataxia (100%), f...

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Detalles Bibliográficos
Autores principales: Rawat, Amit, Tyagi, Rahul, Chaudhary, Himanshi, Pandiarajan, Vignesh, Jindal, Ankur Kumar, Suri, Deepti, Gupta, Anju, Sharma, Madhubala, Arora, Kanika, Bal, Amanjit, Madaan, Priyanka, Saini, Lokesh, Sahu, Jitendra Kumar, Ogura, Yumi, Kato, Tamaki, Imai, Kohsuke, Nonoyama, Shigeaki, Singh, Surjit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904522/
https://www.ncbi.nlm.nih.gov/pubmed/35260754
http://dx.doi.org/10.1038/s41598-022-08019-0

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