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pro vyhledávání: '"Leila H. Shigapova"'
Autor:
Elena Shagimardanova, Leila H. Shigapova, Margarita V. Savina, Svetlana V. Sarantseva, Evgenija A. Kochenova, Alexandra D. Slobodina, Olga E. Agranovich, Artem E Komissarov, Svetlana I. Trofimova, Elena L. Gabbasova
Publikováno v:
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 8:333-342
Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4