NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

Autor: Nistala H; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Dronzek J; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Chim SM; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Rajamani S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Nuwayhid S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Delgado D; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Burke E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Franklin MC; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Sarangapani P; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Podgorski M; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Tang Y; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Dominguez MG; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Withers M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Deckelbaum RA; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Scheonherr CJ; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Gahl WA; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Malicdan MC; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Zambrowicz B; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Gale NW; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Chung WK; Columbia University Medical Center, New York, NY 10032, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Economides AN; Regeneron Genetics Center, Tarrytown, NY 10591, USA.; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2021 Jan 06; Vol. 29 (21), pp. 3516-3531.