TSC2 and tuberous sclerosis: Heterozygosity was observed in 3 novel variants: COL3A1, c.3256-43T > G(NM_000090.3), (Fig. 2A) which represented a missense mutation in the collagen type III alpha 1 protein; the other 2 mutations were FLNB c.4814G > A (NM_001457.3) (Fig. 2B) represented bone dysplasia; and TSC2 c.3145G > A (NM_000548.3) (Fig. 2C) represented tuberous sclerosis complex.