Article
Carrier testing for spinal muscular atrophy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2010
Gitlin Jonathan M, Fischbeck Kenneth, Crawford Thomas O, Cwik Valerie, Fleischman Alan, Gonye Karla, Heine Deborah, Hobby Kenneth, Kaufmann Petra, Keiles Steven, MacKenzie Alex, Musci Thomas, Prior Thomas, Lloyd-Puryear Michele, Sugarman Elaine A, Terry Sharon F, Urv Tiina, Wang Ching, Watson Michael, Yaron Yuval, Frosst Phyllis, Howell R Rodney
Abstract excerpt
Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagreement among professional medical societies who proffer standards of care as to whether or not carrier screening for spinal muscular atrophy should be offered as part of routine reproductive care. This leaves health...
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