Fig. 2From: Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case reporta The pedigree of the patient. The proband was indicated by an arrow. b Identification of a splicing variant in the POC1A gene. Sequences show a homozygous splicing variant (c.981+1G>A in intron 9) in the patient. The patient’s father and mother were both carriers. Red arrows, mutant basesBack to article page