PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

  title={PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome},
  author={Maria Ines Kavamura and Maria Grazia Pomponi and Marcella Zollino and Rosetta Lecce and Marina Murdolo and D{\'e}cio Brunoni and Maur{\'i}cio M.A. Alchorne and John M Opitz and Giovanni Neri},
  journal={European Journal of Human Genetics},
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation. It was described in 1986, and to date is of unknown genetic etiology. All reported cases are sporadic, born to non-consanguineous parents and have apparently normal chromosomes. Noonan and Costello syndromes remain its main differential diagnosis. The recent… CONTINUE READING


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Mutation in the gene for protein tyrosine phosphatase SHP-2 (PTPN11) in a large family with Noonan/cardio-facio-cutaneous syndrome

E Schollen, G Matthijs, E Legius, J Fryns
Eur J Hum Genet • 2002

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