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pro vyhledávání: '"Uma Udar"'
Autor:
Kent W. Small, Caroline A. Tawfik, Nitin Udar, Uma Udar, Jessica Avetisjan, Lamia A. El-aidy, Fadi S. Shaya
Publikováno v:
Retina. 42:2379-2387
Autor:
Kent W, Small, Caroline A, Tawfik, Nitin, Udar, Uma, Udar, Jessica, Avetisjan, Lamia A, El-Aidy, Fadi S, Shaya
Publikováno v:
Retina (Philadelphia, Pa.). 42(12)
To describe a new ocular phenotype in a single Egyptian family associated with a heterozygous noncoding mutation in the North Carolina macular dystrophy (NCMD/MCDR1) locus, likely affecting the PRDM13 gene.A retrospective, clinical chart review of 11