Russell et al. (p. 2122, DOI: 10.1002/ajmg.a.37131) suggests certain patients with Bohring–Opitz syndrome (BOS) should be monitored for Wilms tumors. In her recent publication on Bohring-Opitz Syndrome two of the eight new patients with ASXL1 mutations were diagnosed with bilateral Wilms tumor. Mutations in ASXL1 gene cause Bohring-Opitz Syndrome. Read here the article: The AMJG sequence:…
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German living in The Netherlands together with my husband and mother of four, writing about the rare disease Bohring-Opitz Syndrome (BOS) of my first born son at bohring-opitz.org and founder of the BOS support group on Facebook.
Why this name?
Why this name? Why has the Bohring-Opitz Syndrome support group on Facebook the name https://www.facebook.com/groups/okketje/? “Okketje” is a term of endearment and means wee Okke. 2007 Okke, a little boy from The Netherlands was born with Bohring-Opitz Syndrome (BOS). When he got this diagnosis, just three weeks after his birth, there were only 20 children…
Read MoreBOS infographic Franc
Infographie de le Syndrome de Bohring-Opitz est maintenant aussi en Français !
Read MoreBOS infografica italiana
Anche la Sindrome di Bohring-Opitz ha la sua locandina in lingua italiana. BOS infografica italiana pdf
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Infographic
Bohring-Opitz Syndrome has his own infographic!By following the link https://bohring-opitz.org/bos-infographic/ you can download the infographic also as jpeg and in different languages. We thank all the parents and friends of the children with Bohring-Opitz syndrome by helping us to make the BOS infographic available in multiple languages!
Read MoreRisk of tumors in Bohring-Opitz Syndrome
Hilary Vernon referred (post filed under Part 04: CANCER on OMMBIDBLOG ) to the recently published study on Bohring-Opitz syndrome (BOS) by Bianca Russell and colleagues and pointed out the risk of Wilms tumor in patients with BOS. Read here the article.
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Happiness!
KULUUT What makes us happy, what gives us strength? Those are the questions Charlotte Driessen tries to get an answer with her documentary about Coen and his special family. Coen, this four years old little boy, comes from The Netherlands and has gotten the diagnosis Bohring-Opitz Syndrome in 2012. A diagnosis that raise much uncertainty and…
Read MoreClinical management of children with BOS
Wow – This is very interesting and special for us! Today the first study about clinical management of children with BOS by Bianca Russell and colleagues is published! http://onlinelibrary.wiley.com/…/10.…/ajmg.a.37131/abstract…
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Bohring-Opitz Syndrome/ASXL1 