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New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis

✍ Scribed by Sheree Bernadette Moko; Tristan Maurice Blandin de Chalain


Book ID
119764220
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
174 KB
Volume
29
Category
Article
ISSN
1010-5182

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Spinocerebellar ataxia associated with a
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## Abstract Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA‐phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chrom