Fig. 2

Sequence confirmation of variants and pedigrees of three families with HR. (A) Heterozygous c.871C > T variant in exon 8 of the PHEX gene in patient 1 and wildtype genotype in her parents. (B) Heterozygous c.1946_1954del variant in exon 19 of the PHEX gene in patient 2 and wildtype genotype in her parents. (C) Homozygous c.54 + 1G > A variant in intron 2 of the DMP1 gene in patient 3 and heterozygous genotype in her parents. Circles and squares in pedigrees represent females and males, respectively. Solid circles with arrow indicate index cases. Double lines between symbols indicate consanguineous marriage. Genotype of each individual is shown under the symbols