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96171 De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype
Safgren SL; Olson RJ; Pinto E Vairo F; Bothun ED; Hanna C; Klee EW; Schimmenti LA
American Journal of Medical Genetics, Part A 2022; 188: 919-925 (IGR: 22-3)