Florian, Rupert

A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. [electronic resource] - International journal of dermatology Feb 2018 - 223-226 p. digital

Publication Type: Case Reports; Journal Article; Review

1365-4632

10.1111/ijd.13862 doi


Cell Adhesion Molecules--genetics
Child, Preschool
Consanguinity
Ectodermal Dysplasia--genetics
Female
Homozygote
Humans
Mutation
Syndactyly--genetics
Syndrome
Tooth Abnormalities--genetics