Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Bess Marshall"'
Autor:
Evan M. Lee, Megha Verma, Nila Palaniappan, Emiko M. Pope, Sammie Lee, Lindsey Blacher, Pooja Neerumalla, William An, Toko Campbell, Cris Brown, Stacy Hurst, Bess Marshall, Tamara Hershey, Virginia Nunes, Miguel López de Heredia, Fumihiko Urano
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and ph
Externí odkaz:
https://doaj.org/article/bc3c0b81c76a408f96f0159ab529ecf8
Autor:
Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty, Tamara Hershey
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-14 (2019)
Abstract Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease. The pathogenesis of Wo
Externí odkaz:
https://doaj.org/article/d1a0ded280414884a78b89ab597cc6ed