Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism [ipfs.io]

FEVR in asymptomatic individuals can be detected using fluorescein angiography ( Figure 5 ), but mild changes in the peripheral retina may be neglected, which might partly contribute to the nonpenetrance in a few families. [molvis.org]

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. [ncbi.nlm.nih.gov]