Fig. 3From: Failure to diagnose hypochondroplasia by prenatal diagnosis: a case reportResults of the FGFR3 analysis in the patient and her parents (a) A novel variant, c.1620C > A, was detected in exon 12 of the proband, which leading to an amino acid change, p. Asn540Lys. b No variant in FGFR3 was detected in the mother of the child. c No variant in FGFR3 was detected in the father of the child.Back to article page