Heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy and extreme phenotypic variability

JIMD Reports

Volumn 12, Issue , 2014, Pages 103-107

  Blumkin, Lubov ^a   Leshinsky Silver, Esther ^a,c   Zerem, Ayelet ^a   Yosovich, Keren ^a   Lerman Sagie, Tally ^a,c   Lev, Dorit ^a,b,c  

^a WOLFSON MEDICAL CENTER   (Israel)

^b GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

Cerebellar ataxia; Cerebellar atrophy; Cerebellar sign; Exome sequencing; Young sister

Indexed keywords

EID: 84922101913     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_251     Document Type: Chapter

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