Heterozygous deletion in exon 6 of <i>STEX</i> gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure.

Kinkar, Jiwan Shriram; Jameel, Patel Zeeshan; Kumawat, Banshi Lal; Kalbhor, Priyanka

Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure.

Kinkar, Jiwan Shriram; Jameel, Patel Zeeshan; Kumawat, Banshi Lal; Kalbhor, Priyanka.

Afiliação

Kinkar JS; Department of Neurology, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India.
Jameel PZ; Department of Paediatrics, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India zeeshan1311@gmail.com.
Kumawat BL; Department of Neurology, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
Kalbhor P; Department of Microbiology, Government Medical College and Hospital, Nagpur, Maharashtra, India.

BMJ Case Rep ; 14(6)2021 Jun 30.

Article em En | MEDLINE | ID: mdl-34193451

Assuntos

Apraxias; Ataxia Cerebelar; Adulto; Apraxias/genética; Ataxia; Ataxia Cerebelar/genética; DNA Helicases; Éxons/genética; Feminino; Humanos; Enzimas Multifuncionais; RNA Helicases/genética; Ataxias Espinocerebelares/congênito; Adulto Jovem

Palavras-chave

brain stem / cerebellum; genetic screening / counselling; neuro genetics; neuroendocrinology

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Apraxias / Ataxia Cerebelar Limite: Adult / Female / Humans Idioma: En Revista: BMJ Case Rep Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Índia País de publicação: Reino Unido

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