Table 1 Summary of Mutations in HOXC13 in Families with Pure Hair and Nail Ectodermal Dysplasia
| Author | Nucleotide change | Amino acid change | Ethnicity | Zygosity | Consanguinity |
|---|---|---|---|---|---|
| Lin et al., 2012 [33] | c.390C > A | p.Tyr130* | Chinese | Homozygous | Consanguineous |
| Lin et al., 2012 [33] | Microdeletion (chr12: 54,308, 194–54, 335, 815) | Deletion of exon 1 | Afghan | Homozygous | Consanguineous |
| Farooq et al., 2013 [35] | c.355delC | p.Leu119Trpfs*20 | Syrian | Homozygous | Consanguineous |
| Ali et al., 2013[34] | c.200-203dupGCCA | p.His68Glnfs*84 | Pakistani | Homozygous | Consanguineous |
| Ali et al., 2013[34] | c.404C > A | p.Ser135* | Pakistani | Homozygous | Consanguineous |
| Li et al., 2017[37] | c.812A > G | p.Gln271Arg | Hispanic | Homozygous | Consanguineous |
| Khan al, 2017[36] | c.929A > C | p.Asn310Thr | Pakistani | Homozygous | Consanguineous |