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Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Bauer, Christiane K; Calligari, Paolo; Radio, Francesca Clementina; Caputo, Viviana; Dentici, Maria Lisa; Falah, Nadia; High, Frances; Pantaleoni, Francesca; Barresi, Sabina; Ciolfi, Andrea; Pizzi, Simone; Bruselles, Alessandro; Person, Richard; Richards, Sarah; Cho, Megan T; Claps Sepulveda, Daniela J; Pro, Stefano; Battini, Roberta; Zampino, Giuseppe; Digilio, Maria Cristina; Bocchinfuso, Gianfranco; Dallapiccola, Bruno; Stella, Lorenzo; Tartaglia, Marco.
Affiliation
  • Bauer CK; Center for Experimental Medicine, Institute of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: cbauer@uke.uni-hamburg.de.
  • Calligari P; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
  • Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Caputo V; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.
  • Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Falah N; Division of Clinical Genetics, Nemours Children's Hospital, Orlando, FL 32827, USA.
  • High F; Medical Genetics, Mass General Hospital for Children, Massachusetts General Hospital, Boston, MA 02114-2696, USA.
  • Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Person R; GeneDX, Gaithersburg, MD 20877, USA.
  • Richards S; GeneDX, Gaithersburg, MD 20877, USA.
  • Cho MT; GeneDX, Gaithersburg, MD 20877, USA.
  • Claps Sepulveda DJ; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Pro S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, 56128 Calambrone, Italy.
  • Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Digilio MC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Bocchinfuso G; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
  • Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Stella L; Department of Chemical Science and Technologies, University of Rome Tor Vergata, 00133 Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Am J Hum Genet ; 103(4): 621-630, 2018 10 04.
Article in En | MEDLINE | ID: mdl-30290154
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Potassium Channels / Ion Channel Gating / Neurodevelopmental Disorders / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Hum Genet Year: 2018 Document type: Article Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Potassium Channels / Ion Channel Gating / Neurodevelopmental Disorders / Mutation Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Hum Genet Year: 2018 Document type: Article Country of publication: United States