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Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
BACKGROUND: Jalili syndrome (JS) is a rare autosomal‐recessive inherited disorder characterized by cone‐rod dystrophy and amelogenesis imperfecta. It is often misdiagnosed in clinical practice due to its heterogeneity and rarity. METHODS: Two JS patients from a consanguineous family were included in...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922947/ https://www.ncbi.nlm.nih.gov/pubmed/35150469 http://dx.doi.org/10.1002/mgg3.1860 |