Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.
Ashwin
A
Dalal
Aneek Das
AD
Bhowmik
Divya
D
Agarwal
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India.
Shubha R
SR
Phadke
D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D059472:Exome / Q000235:genetics*; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D009128:Muscle Spasticity / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D009896:Optic Atrophy / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D011859:Radiography; D020754:Spinocerebellar Ataxias / Q000209:etiology / Q000235:genetics* / Q000473:pathology