EDA and X-linked hypohidrotic ectodermal dysplasia: In this study, we found four missense mutations (p. A349 V, p. R156H, p. L49H, and p. R153C)[20–22] in the EDA gene that have previously been found to be responsible for XLHED, but the mutation detected in exon 9 (p. Ala349Val) has never been reported before.