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pro vyhledávání: '"Phillipe Klee"'
Autor:
Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand, Ariane Paoloni-Giacobino
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identifi
Externí odkaz:
https://doaj.org/article/102969af2e104a7a9fb8417aa5423bf4
Autor:
Marc Abramowicz, Ariane Paoloni-Giacobino, Maria Teresa Carminho-Rodrigues, Michel Guipponi, Nils Guinand, Sacha Laurent, Helene Cao-Van, Phillipe Klee
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol. 21, No 1 (2020) P. 109
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
BMC Medical Genetics, Vol. 21, No 1 (2020) P. 109
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
BackgroundPerrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different genes have been identified:HARS2,