{Reference Type}: Case Reports
{Title}: NPHP1-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases.
{Author}: Reddy S;Simmers R;Shah A;Couser N;
{Journal}: Clin Case Rep
{Volume}: 11
{Issue}: 9
{Year}: 2023 Sep
暂无{DOI}: 10.1002/ccr3.7818
{Abstract}: 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.