Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome

Figure 3

The pedigree and DNA sequencing of family B (a). The pedigree of family B.(b) III : 1 and III : 2 had a heterozygous c.748G > A variant in the MKKS gene, IV : 1 had none of the mutant allele, and proband IV : 2 had a homozygous c.748G > A variant.

(a)

(b)