Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.
Clinical genetics 2014 Dec .
McInerney-Leo A M, Harris J E, Leo P J, Marshall M S, Gardiner B, Kinning E, Leong H Y, McKenzie F, Ong W P, Vodopiutz J, Wicking C, Brown M A, Zankl A, Duncan E
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