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  1. No Access

    Article

    Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

    Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature and heart disease (most commonly pulmonic stenosis and hypertrophic cardi...

    Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg, Giuseppe Zampino… in Nature Genetics (2001)

  2. No Access

    Article

    A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

    Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers ...

    Hiroshi Inoue, Yukio Tanizawa, Jon Wasson, Philip Behn, Kamini Kalidas… in Nature Genetics (1998)