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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

Mohammad A. Al-Muhaizea; Faten AlMutairi; Rawan Almass; Safinaz AlHarthi; Mazhor S. Aldosary; Maysoon Alsagob; Ali AlOdaib; Dilek Colak; Namik Kaya
The Cerebellum · Vol. 17, Issue 3 · pp. 276-285 · 2018
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Bibliographic Information

JournalThe Cerebellum
PublisherSpringer
Publication Date2018-06-01
Publication Year2018
Volume17
Issue3
Pages276-285
Document TypeJournal Article
eISSN1473-4230
DOI10.1007/s12311-017-0893-2

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NARA Access Coverage2002-01-01~Current
Journal Homepagehttps://www.springer.com/journal/12311
Publisher PageOpen Publisher Page
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