Article
Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.
Pediatric neurology - 1 Aug 2004
van der Zwaag Bert, Verzijl Harriette T F M, Wichers Karin H, Beltran-Valero de Bernabe Daniel, Brunner Han G, van Bokhoven Hans, Padberg George W
Abstract excerpt
Möbius syndrome is a rare congenital disease characterized by the paralysis of the facial nerve, accompanied by impaired ocular abduction. We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22. Southern analysis of patients from the Möbius syndrome 2 family and 41 isolated Möbius syndrome patients did...
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