J
J.F. Geddes
Researcher at Queen Mary University of London
Publications - 2
Citations - 427
J.F. Geddes is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Plectin & Epidermolysis bullosa simplex. The author has an hindex of 2, co-authored 2 publications receiving 420 citations.
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Journal ArticleDOI
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
Fjd Smith,Robin A.J. Eady,Irene M. Leigh,James R. McMillan,E.L. Rugg,David P. Kelsell,Stephen P. Bryant,Nigel K. Spurr,J.F. Geddes,G. Kirtschig,G. Milana,A.G. de Bono,Katsushi Owaribe,Gerhard Wiche,Leena Pulkkinen,Jouni Uitto,Whi McLean,E. B. Lane +17 more
TL;DR: It is reported that mutation in the gene for plectin, a cytoskeleton–membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering associated withepidermolysis bullosa simplex.
Journal ArticleDOI
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.
Jemima E. Mellerio,Fjd Smith,James R. McMillan,Whi McLean,John A. McGrath,G. A. J. Morrison,P. Tierney,D. M. Albert,Gerhard Wiche,Irene M. Leigh,J.F. Geddes,E. B. Lane,Jouni Uitto,Robin A.J. Eady +13 more
TL;DR: Two unrelated patients, both of consanguineous parentage, who presented with cutaneous blistering and a hoarseness and stridor in infancy are reported, and the identification of mutations in PLEC1 may be predictive for the future development of muscular dystrophy.