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...
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
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Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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Sujets: | Journal Article
Epilepsy
Genes, WDR45
Neurodegenerative diseases
Neuroimaging
Carrier Proteins
WDR45 protein, human |