A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
Abstract Background Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTI...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
Sociedade Brasileira de Dermatologia,
2023-08-01T00:00:00Z.
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