Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4

IMPORTANCE: Familial exudative vitreoretinopathy (FEVR) is a nonsyndromic autosomal dominant retinal disorder commonly caused by variants in the FZD4 gene. This study investigates the potential role beyond ocular abnormalities for FZD4 gene variants in patients with FEVR. OBJECTIVE: To evaluate the...

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Detalles Bibliográficos
Autores principales: van der Ende, Sarah R., Meyers, Benjamin S., Capasso, Jenina E., Sasongko, Mario, Yonekawa, Yoshihiro, Pihlblad, Matthew, Huey, Jennifer, Bedoukian, Emma C., Krantz, Ian D., Ngo, Michael H., McMaster, Christopher R., Levin, Alex V., Robitaille, Johane M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9372905/
https://www.ncbi.nlm.nih.gov/pubmed/35951321
http://dx.doi.org/10.1001/jamaophthalmol.2022.2914

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