Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.

Beskorovainaya, Tatiana; Konovalov, Fedor; Demina, Nina; Shchagina, Olga; Pashchenko, Maria; Kanivets, Ilya; Pyankov, Denis; Ryzhkova, Oxana; Polyakov, Alexander

Beskorovainaya, Tatiana; Konovalov, Fedor; Demina, Nina; Shchagina, Olga; Pashchenko, Maria; Kanivets, Ilya; Pyankov, Denis; Ryzhkova, Oxana; Polyakov, Alexander.

Afiliación

Beskorovainaya T; Federal State Budgetary Institution "Research Centre for Medical Genetics", Moskvorechie str., 1, Moscow, Russia, 115522. t-kovalevskaya@yandex.ru.
Konovalov F; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.
Demina N; Federal State Budgetary Institution "Research Centre for Medical Genetics", Moskvorechie str., 1, Moscow, Russia, 115522.
Shchagina O; Federal State Budgetary Institution "Research Centre for Medical Genetics", Moskvorechie str., 1, Moscow, Russia, 115522.
Pashchenko M; Federal State Budgetary Institution "Research Centre for Medical Genetics", Moskvorechie str., 1, Moscow, Russia, 115522.
Kanivets I; Genomed Ltd., Moscow, Russia.
Pyankov D; Genomed Ltd., Moscow, Russia.
Ryzhkova O; Federal State Budgetary Institution "Research Centre for Medical Genetics", Moskvorechie str., 1, Moscow, Russia, 115522.
Polyakov A; Federal State Budgetary Institution "Research Centre for Medical Genetics", Moskvorechie str., 1, Moscow, Russia, 115522.

J Autism Dev Disord ; 51(6): 2159-2163, 2021 06.

Article en En | MEDLINE | ID: mdl-32816169

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Autism Dev Disord Año: 2021 Tipo del documento: Article

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