Health and Quality of Life in Adults with Noonan Syndrome

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

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

Molecular Physiology, Signal Transduction, Genetic Disorder +8

Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert, Martin Zenker, Sara L. Rowe et al. · Nature Genetics · 2006 · 736 citations

Germline Kras Mutations, Mendelian Disorder, Genetic Disorder +6

Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development.

A. Prader, R. H. Largo, Luciano Molinari et al. · PubMed · 1989 · 683 citations

Young Adult Development, Human Growth, Education +19

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

Abdur Razzaque, Tsutomu Nishizawa, Yuta Komoike et al. · Nature Genetics · 2007 · 490 citations

Genetic Disorder, Genetics, Pathology +3

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 410 citations · Full text

Noonan-like Syndrome, Loose Anagen Hair, Genetics +3