Nectinopathies: Ectodermal Dysplasia Syndromes Caused by Mutations in PVRL1/4 Genes Encoding Cell Adhesion Molecules Nectins-1/4
摘要
Among more than 200 clinically recognized ectodermal dysplasias (EDs), a rather distinctive association is represented by cutaneous syndactyly of digits III-IV and ectodermal defects, mainly abnormalities of the hair shaft and alopecia, with or without: cleft lip/palate, palmoplantar hyperkeratosis, mild cognitive impairment.