Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intell...

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Опубликовано в: :Am J Med Genet A
Главные авторы: Russell, Bianca, Johnston, Jennifer J, Biesecker, Leslie G., Kramer, Nancy, Pickart, Angela, Rhead, William, Tan, Wen-Hann, Brownstein, Catherine A, Clarkson, L Kate, Dobson, Amy, Rosenberg, Avi Z, Schrier Vergano, Samantha A., Helm, Benjamin M., Harrison, Rachel E, Graham, John M
Формат: Artigo
Язык:Inglês
Опубликовано: 2015
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4760347/
https://ncbi.nlm.nih.gov/pubmed/25921057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37131
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