Browsing Medicine Research by Subject "cataract"

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    • Congenital microcephaly-linked CDK5RAP2 affects eye development 

      Zaqout, Sami; Ravindran, Ethiraj; Stoltenburg-Didinger, Gisela; Kaindl, Angela M ( Wiley , 2020 , Article)
      Biallelic mutations in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 cause autosomal recessive primary microcephaly type 3 (MCPH3). MCPH is characterized by intellectual disability and ...