Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.

Carson, Robert P; Bird, Lynne; Childers, Anna K; Wheeler, Ferrin; Duis, Jessica

Carson, Robert P; Bird, Lynne; Childers, Anna K; Wheeler, Ferrin; Duis, Jessica.

Afiliação

Carson RP; Divisions of Child Neurology and Epilepsy, Department of Pediatrics, Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
Bird L; Department of Pharmacology, Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
Childers AK; Division of Genetics/Dysmorphology, Department of Pediatrics, Rady Children's Hospital, University of California San Diego, San Diego, California.
Wheeler F; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.
Duis J; Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee.

Mol Genet Genomic Med ; 7(9): e837, 2019 09.

Article em En | MEDLINE | ID: mdl-31400086

Assuntos

Síndrome de Angelman/diagnóstico; Síndrome de Angelman/genética; Idioma; Mosaicismo; Fenótipo; Adolescente; Adulto; Síndrome de Angelman/epidemiologia; Criança; Pré-Escolar; Comunicação; Feminino; Impressão Genômica; Humanos; Incidência; Masculino; Índice de Gravidade de Doença; Comportamento Social; Inquéritos e Questionários; Adulto Jovem

Palavras-chave

Angelman syndrome; epilepsy; imprinting; mosaic Angelman syndrome; mosaicism

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Angelman / Idioma / Mosaicismo Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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