Article
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.
Scientific reports - 8 Mar 2022
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
Abstract excerpt
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%), fever, loose stools or infection (67%), cerebellar atrophy (50%), nystagmus (8%), dysarthria (15.38%), and visual...
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