Erratum: Corrigendum: Germline KRAS mutations cause Noonan syndrome
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چکیده
منابع مشابه
KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation
Patients This study consisted of 34 NS patients (22 males and 12 females) aged 0.1–34.5 years who met the diagnostic criteria proposed by van der Burgt et al. (8). All patients were found to have no discernible mutations in the coding exons 1– 15 of PTPN11 by direct sequencing; the clinical and molecular data in PTPN11 mutation positive patients have been reported previously (9). The karyotype ...
متن کاملEffects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
Cardiofaciocutaneous syndrome (CFC) and Noonan syndrome (NS) are two phenotypically overlapping genetic disorders whose underlying molecular etiologies affect a common signaling pathway. Mutations in the BRAF, MEK1, and MEK2 genes cause most cases of CFC and mutations in PTPN11, SOS1, KRAS, and RAF1 typically cause NS. Although both syndromes are associated with developmental delays of varying ...
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Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras-mitogen-activated-protein-kinase (MAPK) signaling pathway. Recently, two mutations in NRAS were reported to be associated with Noonan syndrome, T50I and G60E. Here, we report a mutation in N...
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There are now reports of nearly 250 independent germline TP53 (p53) mutations in over 100 publications. Such mutations are typically associated with Li-Fraumeni or Li-Fraumeni-like syndrome, although many have been identified in cohorts of patients with tumors considered to be typical of LFS. In general, the spectrum of mutations that has been detected in the germline reflects that found in tum...
متن کاملNoonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2006
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng0506-598