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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

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第一作者: Felix,Marbach
第一单位: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
作者单位: Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. [1] Faculty of Medicine, University of Cologne, Cologne, Germany. [2] Faculty of Medicine, University of Cologne, Cologne, Germany.;Institute of Human Genetics, University Hospital Cologne, Cologne, Germany. [3] Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA. [4] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Baylor Genetics Laboratory, Houston, TX, USA. [5] GeneDX, Gaithersburg, MD, USA. [6] Mission Fullerton Genetics Center, Asheville, NC, USA. [7] Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. [8] Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA. [9] Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. [10] Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.;Department of Psychiatry & Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.;Institute for Society and Genetics, UCLA, Los Angeles, CA, USA. [11] Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA. [12] Baylor Genetics Laboratory, Houston, TX, USA. [13] Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, International Centre for Life, Times Square, Newcastle upon Tyne, UK. [14] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. [15] INTEGRIS Pediatric Neurology, Oklahoma City, OK, USA. [16] Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. Christian.Schaaf@med.uni-heidelberg.de.;Institute of Human Genetics, University Hospital Cologne, Cologne, Germany. Christian.Schaaf@med.uni-heidelberg.de.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Christian.Schaaf@med.uni-heidelberg.de. [17]
DOI 10.1038/s41436-021-01152-7
PMID 33833410
发布时间 2024-02-22
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Genetics in medicine : official journal of the American College of Medical Genetics

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