Ramblings of a pathologically information hungry mother about hypochondroplasia, about rearing 3 girls in a foreign country and about all the random thoughts my sleep deprived and over-stimulated brain can come up with.
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.
Labels:
Hypochondroplasia - genetics
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
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
Labels:
Hypochondroplasia - genetics
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