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.