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, Tan WH, Graham JM Jr. Bohring-Opitz Syndrome. 2018 Feb 15. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.

Read the article here:

https://www.ncbi.nlm.nih.gov/books/NBK481833/

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/