Medical Articles

A parent with a new BOS diagnosis, or a family member trying to learn more about the disorder can be overwhelmed by the medical literature about BOS. The literature is written in medical jargon and may be hard to understand. We polled our medical advisors for their top selections on the best articles for those new to the syndrome. Here’s what they suggested:


Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan W-H, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SAS, Helm BM, Harrison RE, Graham Jr. JM. 2015. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet Part A 167A:2122–2131.

Read the article here: 

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37131/abstract 


Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K. 2015. Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. Am J Med Genet Part A 167A:3161–3166.

Read the article here: 

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37342/abstract


Hastings, Rob; Cobben, Jan-Maarten; Gillessen-Kaesbach, Gabriele; Goodship, Judith; Hove, Hanne; Kjaergaard, Susanne; Kemp, Helena; Kingston, Helen; Lunt, Peter; Mansour, Sahar; McGowan,Ruth; Metcalfe, Kay; Murdoch-Davis, Catherine; Ray,Mary; Rio,Marle`ne; Smithson, Sarah; Tolmie, John; Turnpenny, Peter; van Bon, Bregje; Wieczorek, Dagmar; Newbury-Ecob, Ruth. 2011. Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. European Journal of Human Genetics.

Read the article here: 

http://www.nature.com/ejhg/journal/v19/n5/full/ejhg2010234a.html


For a comprehensive list of all literature about BOS, please visit:

 https://bohring-opitz.org/bosasxl1/resources/medical-publications/