Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.

Grigorenko, Anastasia P; Protasova, Maria S; Lisenkova, Alexandra A; Reshetov, Denis A; Andreeva, Tatiana V; Garcias, Gilberto De Lima; Martino Roth, Maria Da Graça; Papassotiropoulos, Andreas; Rogaev, Evgeny I

Grigorenko, Anastasia P; Protasova, Maria S; Lisenkova, Alexandra A; Reshetov, Denis A; Andreeva, Tatiana V; Garcias, Gilberto De Lima; Martino Roth, Maria Da Graça; Papassotiropoulos, Andreas; Rogaev, Evgeny I.

Afiliação

Grigorenko AP; Center for Genetics and Life Science, Sirius University of Science and Technology, 354340 Sochi, Russia.
Protasova MS; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia.
Lisenkova AA; Department of Psychiatry, UMass Chan Medical School, Shrewsbury, MA 01545, USA.
Reshetov DA; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia.
Andreeva TV; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia.
Garcias GL; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia.
Martino Roth MDG; Center for Genetics and Life Science, Sirius University of Science and Technology, 354340 Sochi, Russia.
Papassotiropoulos A; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, 119333 Moscow, Russia.
Rogaev EI; Center for Genetics and Genetic Technologies, Department of Genetics, Faculty of Biology, Lomonosov Moscow State University, 119192 Moscow, Russia.

Cells ; 11(3)2022 01 25.

Article em En | MEDLINE | ID: mdl-35159210

Assuntos

Deficiência Intelectual; Transtornos do Neurodesenvolvimento; Receptores de Glutamato; Distúrbios da Fala; Adulto; Éxons; Humanos; Deficiência Intelectual/genética; Transtornos do Neurodesenvolvimento/genética; Receptores de Glutamato/genética; Distúrbios da Fala/genética; Síndrome

Palavras-chave

cerebellum hypoplasia; congenital cerebellar ataxia; disequilibrium syndrome; intellectual disability; mental retardation; quadrupedal locomotion; speech

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distúrbios da Fala / Receptores de Glutamato / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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