Brain Tissue Low-Level Mosaicism for <i>MTOR</i> Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.

Szczaluba, Krzysztof; Rydzanicz, Malgorzata; Walczak, Anna; Kosinska, Joanna; Koppolu, Agnieszka; Biernacka, Anna; Iwanicka-Pronicka, Katarzyna; Grajkowska, Wieslawa; Jurkiewicz, Elzbieta; Kowalczyk, Pawel; Ploski, Rafal

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.

Szczaluba, Krzysztof; Rydzanicz, Malgorzata; Walczak, Anna; Kosinska, Joanna; Koppolu, Agnieszka; Biernacka, Anna; Iwanicka-Pronicka, Katarzyna; Grajkowska, Wieslawa; Jurkiewicz, Elzbieta; Kowalczyk, Pawel; Ploski, Rafal.

Afiliação

Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c Str., 02-106 Warsaw, Poland.
Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c Str., 02-106 Warsaw, Poland.
Walczak A; Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c Str., 02-106 Warsaw, Poland.
Kosinska J; Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c Str., 02-106 Warsaw, Poland.
Koppolu A; Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c Str., 02-106 Warsaw, Poland.
Biernacka A; Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c Str., 02-106 Warsaw, Poland.
Iwanicka-Pronicka K; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Grajkowska W; Department of Pathology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Jurkiewicz E; Department of Diagnostic Imaging, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Kowalczyk P; Department of Neurosurgery, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Ploski R; Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c Str., 02-106 Warsaw, Poland.

Diagnostics (Basel) ; 11(7)2021 Jul 15.

Article em En | MEDLINE | ID: mdl-34359351

Palavras-chave

MTOR; SmithKingsmore syndrome; hemimegalencephaly; hypoglycemia; metabolism; mosaicism; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Revista: Diagnostics (Basel) Ano de publicação: 2021 Tipo de documento: Article

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