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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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Article
Accés en línia: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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