P02.10.C Cataract and retinal dystrophy inVps13b(Delta Ex3/Delta Ex3)mice

Autor: Lhussiez, Vincent, Cesar, Quénol, Dubus, Elisabeth, Simonutti, Manuel, Lizé, Eléonore, Nguyen, Sylvie, Geissler, Audrey, Bouchot, André, Picaud, Serge, Nandrot, Emeline F., Acar, Niyazi, Faivre, Laurence, Thauvin, Christel, Duplomb, Laurence, Da Costa, Romain

Publikováno v: European Society of Human Genetics
53. European Society of Human Genetics (ESHG) Conference
53. European Society of Human Genetics (ESHG) Conference, Jun 2020, Virtual conference, United Kingdom. pp.141-797, ⟨10.1038/s41431-020-00739-z⟩

International audience; Cohen syndrome (CS) is a rare genetic disorder due to variation in the VPS13B gene. It is characterized by a wide variety of clinical features that includes a typical facial dysmorphism, hypotonia, neutropenia, microcephaly, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9578817e7ae80fec3ab315f9365f55d0
https://hal.inrae.fr/hal-03165390

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