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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Hughes, Joel J; Alkhunaizi, Ebba; Kruszka, Paul; Pyle, Louise C; Grange, Dorothy K; Berger, Seth I; Payne, Katelyn K; Masser-Frye, Diane; Hu, Tommy; Christie, Michelle R; Clegg, Nancy J; Everson, Joshua L; Martinez, Ariel F; Walsh, Laurence E; Bedoukian, Emma; Jones, Marilyn C; Harris, Catharine Jean; Riedhammer, Korbinian M; Choukair, Daniela; Fechner, Patricia Y; Rutter, Meilan M; Hufnagel, Sophia B; Roifman, Maian; Kletter, Gad B; Delot, Emmanuele; Vilain, Eric; Lipinski, Robert J; Vezina, Chad M; Muenke, Maximilian; Chitayat, David.
Afiliación
  • Hughes JJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Alkhunaizi E; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto,
  • Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: paul.kruszka@nih.gov.
  • Pyle LC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA.
  • Berger SI; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washi
  • Payne KK; Division of Child Neurology, Riley Hospital for Children, Indianapolis, Indiana, 46202, USA.
  • Masser-Frye D; Department of Pediatrics, Division of Genetics, University of California San Diego-Rady Children's Hospital, San Diego, CA 92123, USA.
  • Hu T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Christie MR; Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.
  • Clegg NJ; Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.
  • Everson JL; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Walsh LE; Division of Child Neurology, Riley Hospital for Children, Indianapolis, Indiana, 46202, USA.
  • Bedoukian E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Jones MC; Department of Pediatrics, Division of Genetics, University of California San Diego-Rady Children's Hospital, San Diego, CA 92123, USA.
  • Harris CJ; Department of Pediatric Genetics, University of Missouri Medical Center, Columbia, MO 65212, USA.
  • Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, 4JQ2+9Q, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, 4JQ2+9Q, Germany.
  • Choukair D; Division of Paediatric Endocrinology and Diabetology, University Children's Hospital, 69120 Heidelberg, Germany.
  • Fechner PY; Division of Pediatric Endocrinology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA.
  • Rutter MM; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
  • Hufnagel SB; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA.
  • Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto,
  • Kletter GB; Pediatric Endocrinology, Mary Bridge Children's Hospital, Tacoma, WA 98404, USA.
  • Delot E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA.
  • Vilain E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA.
  • Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • Vezina CM; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto,
Am J Hum Genet ; 106(1): 121-128, 2020 01 02.
Article en En | MEDLINE | ID: mdl-31883643
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Anomalías Urogenitales / Anomalías Múltiples / Holoprosencefalia / Fosfatasa de Miosina de Cadena Ligera / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Anomalías Urogenitales / Anomalías Múltiples / Holoprosencefalia / Fosfatasa de Miosina de Cadena Ligera / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos