De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype

Stephanie L. Safgren, Rory J. Olson, Filippo Pinto e Vairo, Erick D. Bothun, Christian Hanna, Eric W. Klee, Lisa A. Schimmenti

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Medicine & Life Sciences