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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Am J Med Genet A
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2015
विषय:
Article
ऑनलाइन पहुंच: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
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन