Ontology highlight
ABSTRACT:
SUBMITTER: Carta C
PROVIDER: S-EPMC1474118 | biostudies-literature | 2006 Jul
REPOSITORIES: biostudies-literature
Carta Claudio C Pantaleoni Francesca F Bocchinfuso Gianfranco G Stella Lorenzo L Vasta Isabella I Sarkozy Anna A Digilio Cristina C Palleschi Antonio A Pizzuti Antonio A Grammatico Paola P Zampino Giuseppe G Dallapiccola Bruno B Gelb Bruce D BD Tartaglia Marco M
American journal of human genetics 20060501 1
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart disease, and multiple skeletal and hematologic defects. NS is an autosomal dominant trait and is genetically heterogeneous. Gain of function of SHP-2, a protein tyrosine phosphatase that positively modulates RAS signaling, is observed in nearly 50% of affected individuals. Here, we report the identification of heterozygous KRAS gene mutations in two subjects exhibiting a severe NS ...[more]