Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

Germline mutations in PTPN11—the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2—represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects. Like many...

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Main Authors: Tartaglia, Marco, Cordeddu, Viviana, Chang, Hong, Shaw, Adam, Kalidas, Kamini, Crosby, Andrew, Patton, Michael A., Sorcini, Mariella, van der Burgt, Ineke, Jeffery, Steve, Gelb, Bruce D.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182027/
https://ncbi.nlm.nih.gov/pubmed/15248152
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