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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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim: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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