Clinical features and MYH9 gene variant in two Chinese siblings with Fechtner syndrome

Objective: To summarize the clinical data and molecular characteristics of two siblings with Fechtner syndrome. Methods: A retrospective analysis was made on the clinical data, laboratory tests and genetic test results of two siblings with Fechtner syndrome in a family who were followed up in the De...

Ausführliche Beschreibung

Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 57(2019), 4 vom: 02. Apr., Seite 286-290
1. Verfasser: Zhao, S L (VerfasserIn)
Weitere Verfasser: Zhao, F, Zhang, A H, Huang, S M
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2019
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Journal Article Genetic testing Proteinuria Thrombocytopenia MYH9 protein, human Molecular Motor Proteins Myosin Heavy Chains EC 3.6.4.1