A Rare Phenotype of Inherited Cerebellar Ataxia.

Autor: Raval DM; Department of General Medicine, Sir Sayajirao General Hospital and Medical College Baroda, Vadodara, IND., Rathod VM; Department of General Medicine, Sir Sayajirao General Hospital and Medical College Baroda, Vadodara, IND., Dobariya RK; Department of General Medicine, Sir Sayajirao General Hospital and Medical College Baroda, Vadodara, IND., Dave MP; Department of General Medicine, Sir Sayajirao General Hospital and Medical College Baroda, Vadodara, IND., Patel NS; Department of General Medicine, Sir Sayajirao General Hospital and Medical College Baroda, Vadodara, IND.

Publikováno v: Cureus [Cureus] 2022 Sep 06; Vol. 14 (9), pp. e28831. Date of Electronic Publication: 2022 Sep 06 (Print Publication: 2022).

Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.

Autor: Ruan, Miaohua, Wang, Hongwei, Zhu, Mianmian, Sun, Rongyue, Shi, Jiamin, Wang, Qiu, Chen, Yuan, Wang, Yihong, Wang, Dan

Publikováno v: Journal of Clinical Laboratory Analysis; Dec2022, Vol. 36 Issue 12, p1-8, 8p