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Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease
Norrie disease is an X-linked genetic disorder caused by pathogenic mutations in the NDP . Here, we describe the clinical phenotype and genotype in a 19-week-old male infant with bilateral retinal detachment. Whole exome sequencing using available commercial methods on the proband revealed a hemizyg...
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| Izdano u: | J Pediatr Genet |
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| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Georg Thieme Verlag KG
2020
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| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7183403/ https://ncbi.nlm.nih.gov/pubmed/32341821 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1700535 |
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