Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort

Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone-rod dystrophy and amelogenesis imperfecta. Few cases have been reported in the Americas. Here we describe a case series of patients with Jalili syndrome examined at the National Eye Institute’s Ophthal...

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Detalles Bibliográficos
Autores principales: Prasov, Lev, Ullah, Ehsan, Turriff, Amy E., Warner, Blake M., Conley, Julie, Mark, Paul R., Hufnagel, Robert B., Huryn, Laryssa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041260/
https://www.ncbi.nlm.nih.gov/pubmed/32022389
http://dx.doi.org/10.1002/ajmg.a.61484

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041260/
https://www.ncbi.nlm.nih.gov/pubmed/32022389
http://dx.doi.org/10.1002/ajmg.a.61484

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