Article
Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.
JAMA ophthalmology - 1 Sept 2022
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
Abstract excerpt
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 role of FZD4 in symptoms beyond those associated with FEVR through a patient with biallelic variants in FZD4....
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