Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.

Quitmann, Christina M; Rust, Stephan; Reunert, Janine; Biskup, Saskia; Fiedler, Barbara; Marquardt, Thorsten

Quitmann, Christina M; Rust, Stephan; Reunert, Janine; Biskup, Saskia; Fiedler, Barbara; Marquardt, Thorsten.

Afiliação

Quitmann CM; University Children's Hospital Muenster, Muenster, Germany.
Rust S; University Children's Hospital Muenster, Muenster, Germany.
Reunert J; University Children's Hospital Muenster, Muenster, Germany.
Biskup S; Center for Genomics and Transcriptomics, Tübingen, Germany.
Fiedler B; University Children's Hospital Muenster, Muenster, Germany.
Marquardt T; University Children's Hospital Muenster, Muenster, Germany.

Child Neurol Open ; 8: 2329048X211034969, 2021.

Article em En | MEDLINE | ID: mdl-34423067

Palavras-chave

TBCD deficiency; ketogenic diet; neutropenia; tubulin; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Child Neurol Open Ano de publicação: 2021 Tipo de documento: Article

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