Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
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T. Harel | V. Meiner | O. Elpeleg | E. Levy-Lahad | H. Mechoulam | Michal Gur | M. Daana | Smadar Horowitz-Cederboim