Condition: Intellectual Disability


rs180177035 in BRAF gene and Intellectual Disability PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

rs28934906 in MECP2 gene and Intellectual Disability PMID 17881312 2008 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

PMID 12065946 2003 Prenatal diagnosis in Rett syndrome.

PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.

PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

PMID 10944834 2000 Chronic osteomyelitis in patients with sickle cell disease.

PMID 20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

rs80338796 in RAF1 gene and Intellectual Disability PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

rs267607048 in SHOC2 gene and Intellectual Disability PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.