Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.

Shambhavi, Arya; Moirangthem, Amita; Pandey, Manmohan; R Phadke, Shubha.

Afiliação

Shambhavi A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India.
Moirangthem A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India.
Pandey M; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India.
R Phadke S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India. shubharaophadke@gmail.com.

Indian J Pediatr ; 2023 Jun 19.

Article em En | MEDLINE | ID: mdl-37335441