Article
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Science translational medicine - 12 Jan 2011
Bell Callum J, Dinwiddie Darrell L, Miller Neil A, Hateley Shannon L, Ganusova Elena E, Mudge Joann, Langley Ray J, Zhang Lu, Lee Clarence C, Schilkey Faye D, Sheth Vrunda, Woodward Jimmy E, Peckham Heather E, Schroth Gary P, Kim Ryan W, Kingsmore Stephen F
Abstract excerpt
Of 7028 disorders with suspected Mendelian inheritance, 1139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~10% of pediatric hospitalizations. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive...
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