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.
PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
rs869320624 in
EMC1-AS1;EMC1 gene and
Developmental delay (disorder)
PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
rs28934906 in
MECP2 gene and
Developmental delay (disorder)
PMID 20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
PMID 10944834 2000 Chronic osteomyelitis in patients with sickle cell disease.
PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.
PMID 17881312 2008 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
rs267607048 in
SHOC2 gene and
Developmental delay (disorder)
PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.