Ocular manifestations of syndromic and ocular-only phenotypes of IFT140-related recessive ciliopathies.

چکیده

IFT140-related recessive ciliopathy is associated with variants in the IFT140 gene and encompasses a syndromic phenotype or a purely ocular phenotype. However, the associations of the specific variants in IFT140 with the resulting syndromic or ocular phenotype have not been systematically…

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موضوعات مرتبط

• رتینوپاتی نارسی
• کاتاراکت (آب مروارید)