Abstract
A Bolze, N Mahlaoui, M Byun. Science. 2013;340(6135):976–978 To identify a potential genetic basis for isolated congenital asplenia. Thirty-three patients from 23 kindreds with a history of congenital asplenia, including multiplex kindreds that suggested an autosomal dominant inheritance pattern. Genomic DNA was initially obtained from at least 1 member of each kindred and subjected to whole exome sequencing followed by testing of remaining subjects. Eighteen (55%) of the 33 subjects from 8 of the 21 kindreds were identified with 7 …
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