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Genes|May 4, 2026
A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain-A Case Report and Literature ReviewMax Chauhan, Kaersti L Rickels, Sudhi P Kurup, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 18, 2024
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndromeJenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, et al.Pageof 3