C. J. Sandy
Moorfields Eye Hospital
2 Papers
12 Citations
C. J. Sandy is an academic researcher from Moorfields Eye Hospital. The author has contributed to research in topics: Penetrance & Distichiasis. The author has an hindex of 2, co-authored 2 publications.
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Papers
Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb
Rachel Bell,G Brice,A H Child,Victoria Murday,Sahar Mansour,C. J. Sandy,J R O Collin,Peter S. Mortimer,David F. Callen,kevin Burnand,Steve Jeffery +10 more
TL;DR: Primary lymphoedema is a chronic tissue swelling which occurs as a consequence of a failure of lymph drainage, and generally shows an autosomal dominant pattern of inheritance with reduced penetrance, variable expression, and variable age of onset.
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Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
Rachel Bell,G Brice,A H Child,V. A. Murday,Sahar Mansour,C. J. Sandy,J R O Collin,Angela F. Brady,David F. Callen,kevin Burnand,Peter S. Mortimer,Steve Jeffery +11 more
TL;DR: In this article, the authors reported the mutational analysis of 14 families with lymphoedema-distichiasis (LD) with 14 families having small insertions or deletions in the gene, which seem likely to produce haploinsufficiency.