%0 Case Reports
%T NPHP1-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases.
%A Reddy S
%A Simmers R
%A Shah A
%A Couser N
%J Clin Case Rep
%V 11
%N 9
%D 2023 Sep
%M 37663822
暂无%R 10.1002/ccr3.7818
%X Our case report and review contribute to the understanding of ocular manifestations in NPHP1 ciliopathies by reinforcing the relationship between pathogenic genetic variants and a wide array of ophthalmic abnormalities.