Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

(2013) Yoko Aoki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Clinical delineation of a patient with trisomy 12q23q24

(2013) Arjan Bouman et al.   European Journal of Medical Genetics

576kb deletion in 1p36.33–p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy

(2013) Xin Zhu et al.   GENE

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

(2013) Elisabetta Flex et al.   JOURNAL OF MEDICAL GENETICS

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Microduplication of 3p25.2 encompassingRAF1associated with congenital heart disease suggestive of Noonan syndrome

(2012) Cheng Luo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

(2011) Shireen R Lamandé et al.   NATURE GENETICS

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms

(2010) Marco Tartaglia et al.   Annals of the New York Academy of Sciences

Genomic duplication ofPTPN11is an uncommon cause of Noonan syndrome

(2009) John M. Graham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2009) Viviana Cordeddu et al.   NATURE GENETICS

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS

Probable Noonan syndrome in a boy withoutPTPN11mutation, manifesting unusual complications

(2009) Muneichiro Sumi et al.   PEDIATRICS INTERNATIONAL

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

(2008) Oleg A. Shchelochkov et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Leopard syndrome

(2008) Anna Sarkozy et al.   Orphanet Journal of Rare Diseases