A phenotypic and genetic study on β-propeller protein-associated neurodegeneration

Objective: To summarize the clinical and genetic features of β-propeller protein-associated neurodegeneration (BPAN). Methods: The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children's Hospital of Fudan University, Peking University First H...

Description complète

Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 57(2019), 11 vom: 02. Nov., Seite 830-836
Auteur principal: Li, W H (Auteur)
Autres auteurs: Chen, Q, Wang, H, Zhang, Y F, Yang, Y, Liu, A J, Liu, W T, Ji, X N, Teng, Z T, Chen, Y C, Wu, B B, Yang, H W, Wang, Y, Zhang, Y H, Zhou, S Z
Format: Article en ligne
Langue:Chinese
Publié: 2019
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:Journal Article Epilepsy Genes, WDR45 Neurodegenerative diseases Neuroimaging Carrier Proteins WDR45 protein, human