By molecular Genetics. In patients with the Margarita type of ectodermal dysplasia, Suzuki et al. (2000) identified a homozygous nonsense mutation in the PVRL1 (600644.0001). The authors suggested that the high frequency of the disorder on Margarita Island may have resulted from resistance of heterozygotes to infection by alpha-herpesviruses. In 2 families from Israel and Brazil described as having Zlotogora-Ogur syndrome, Suzuki et al. (2000) also found homozygous mutations in the PVRL1 gene (600644.0002-600644.0003).9
Rosselli–Gulienetti syndrome
Naegeli–Franceschetti–Jadassohn syndrome
Gómez–López-Hernández syndrome
Muir–Torre syndrome
Galloway Mowat syndrome
Sanjad-Sakati syndrome
Fraser syndrome
Townes–Brocks syndrome