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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina G S; Signer, Rebecca H; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.
Afiliación
  • Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Stoyanov G; Faculty of Medicine, University of Cologne, Cologne, Germany.
  • Erger F; Faculty of Medicine, University of Cologne, Cologne, Germany.
  • Stratakis CA; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
  • Settas N; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
  • London E; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
  • Rosenfeld JA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
  • Torti E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Haldeman-Englert C; Baylor Genetics Laboratory, Houston, TX, USA.
  • Sklirou E; GeneDX, Gaithersburg, MD, USA.
  • Kessler E; Mission Fullerton Genetics Center, Asheville, NC, USA.
  • Ceulemans S; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  • Nelson SF; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  • Martinez-Agosto JA; Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA.
  • Palmer CGS; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Signer RH; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Andrews MV; Department of Psychiatry & Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Grange DK; Institute for Society and Genetics, UCLA, Los Angeles, CA, USA.
  • Willaert R; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Telegrafi A; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.
  • Sievers A; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.
  • Laugsch M; Baylor Genetics Laboratory, Houston, TX, USA.
  • Theiß S; GeneDX, Gaithersburg, MD, USA.
  • Cheng Y; GeneDX, Gaithersburg, MD, USA.
  • Lichtarge O; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Katsonis P; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Stocco A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Schaaf CP; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, International Centre for Life, Times Square, Newcastle upon Tyne, UK.
Genet Med ; 23(8): 1465-1473, 2021 08.
Article en En | MEDLINE | ID: mdl-33833410
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Apraxias / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Apraxias / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article