Showing posts with label Hypochondroplasia - genetics. Show all posts
Showing posts with label Hypochondroplasia - genetics. Show all posts

Sunday, 18 August 2013

First preimplantation genetic diagnosis for the common mutation of hypochondroplasia

I have often wondered if PDG for HCH has already been made possible, just found the article. I am not advocating for this, nor am I judging.

Friday, 8 July 2011

Hypochondroplasia - genetics detailed

Here are the most detailed, best links to get a thorough understanding about the genetics of hypochondroplasia.

I have saved a copy of the information of all of these sites, so if the links no longer seem to be active, please e-mail me and I will send you a copy.

http://ghr.nlm.nih.gov/condition/hypochondroplasia

http://www.ncbi.nlm.nih.gov/books/NBK1477/

http://omim.org/entry/146000


I would not call this a core article, but I learnt loads reading it:
http://www.nature.com/ejhg/journal/v14/n12/full/5201700a.html