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Updated: Sep 27, 2026
07:33
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation
D F Schorderet1, M C Addor, Ph Maeder
1Division of Medical Genetics, CHUV, Lausanne, Switzerland.
Genetic Counseling (Geneva, Switzerland)
|February 1, 2003
Abstract:
Two brothers with a combination of atypical syndactylies, cerebellar atrophy and severe mental retardation are described. These cases share important features with the group of craniodigital syndromes and could represent new occurrences of Filippi syndrome. Cerebellar atrophy may represent a yet unreported finding in this syndrome.
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