Condition: Depressed nasal bridge


rs180177035 in BRAF gene and Depressed nasal bridge PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

rs779027563 in CNTNAP1 gene and Depressed nasal bridge PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs864309488 in GMNN gene and Depressed nasal bridge PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

rs587777893 in MTOR gene and Depressed nasal bridge PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs1567368243 in SIN3A gene and Depressed nasal bridge PMID 30267900 2019 Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.