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...

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Detalles Bibliográficos
Autores principales: Hirji, Nashila, Bradley, Patrick D., Li, Shuning, Vincent, Ajoy, Pennesi, Mark E., Thomas, Akshay S., Heon, Elise, Bhan, Aparna, Mahroo, Omar A., Robson, Anthony, Inglehearn, Chris F., Moore, Anthony T., Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2018
Materias:
Article
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

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