Associated Papers
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis.
Yang W et al.
Rare Diseases (austin, Tex.), 2013
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
Sobreira NL et al.
Plos Genetics, 2010
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