Fig. 4

Verification results (HOXD13)

A.2%agarosegel electrophoresis was used to detect PCR products: subjects; H2O.Negative control; M. DL 2000 DNA marker (Note: the gel figure was cropped; The original gel image is in Additional file3: Figure S2). B. Sanger sequencing validation results: II4 proband is GA heterozygous; The carriers with incomplete penetrance of III12 has normal phenotype, but the genotype is GA heterozygous; III8 normal member, genotype is GG homozygous; III2 normal member, the genotype is GG homozygous.