Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia.

Arora, Anshita; Bajaj, Shruti; Rathod, Nishant; Hegde, Anaita U

Arora, Anshita; Bajaj, Shruti; Rathod, Nishant; Hegde, Anaita U.

Afiliação

Arora A; DNB Pediatrics, Fellowship in Pediatric Neurology, Clinical Associate in Pediatric Neurology, Jaslok Hospital and Research Center, Mumbai, Maharashtra, India.
Bajaj S; MD Pediatrics, Fellowship in Clinical Genetics (MUHS), Consultant Clinical Geneticist, NH SRCC Children Hospital, Mumbai, Maharashtra, India.
Rathod N; DNB Pediatrics, Clinical Fellow in Pediatric Neurology, Jaslok Hospital and Research Center, Mumbai, Maharashtra, India.
Hegde AU; MD Pediatrics MRCPCH (Lon), Consultant Pediatric Neurologist, NH SRCC Children Hospital, Mumbai, Maharashtra, India.

Ann Indian Acad Neurol ; 25(6): 1167-1169, 2022.

Article em En | MEDLINE | ID: mdl-36911447

Palavras-chave

Dystonia; exome sequencing; genetic counselling; rare diseases

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Revista: Ann Indian Acad Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia País de publicação: Índia

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