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Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta
PURPOSE: To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as “Jalili Syndrome.” DESIGN: Retrospective observational case series. METHODS: Seven patients from 6 families with Jalili Syndrome w...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier Science
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873517/ https://www.ncbi.nlm.nih.gov/pubmed/29421294 http://dx.doi.org/10.1016/j.ajo.2018.01.029 |