A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature
Titel:
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature
Auteur:
Al-Muhaizea, Mohammad A. AlMutairi, Faten Almass, Rawan AlHarthi, Safinaz Aldosary, Mazhor S. Alsagob, Maysoon AlOdaib, Ali Colak, Dilek Kaya, Namik