Condition: Narrow forehead


rs1064795945 in ASPM gene and Narrow forehead PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

rs779027563 in CNTNAP1 gene and Narrow forehead PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs786200952 in KAT6A gene and Narrow forehead PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs1064796738 in KIF11 gene and Narrow forehead PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

rs121918459 in PTPN11 gene and Narrow forehead PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

rs1557043622 in SLC35A2 gene and Narrow forehead PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs137852813 in SOS1 gene and Narrow forehead PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

PMID 19953625 2010 Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

PMID 17586837 2007 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.