Associated Papers
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Ali G et al.
Genetics Research, 2023
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
Ahmad F et al.
Annals of Human Genetics, 2018
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
Florian R et al.
International Journal of Dermatology, 2018
A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
Raza SI et al.
Annals of Human Genetics, 2015
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