Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl

BACKGROUND: Primary familial brain calcification (PFBC) is a rare inheritable neurodegenerative disease characterized by bilateral calcification in different brain regions and by a range of neuropsychiatric symptoms. Six causative genes of PFBC (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2) have be...

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Detalles Bibliográficos
Autores principales: Sun, Hao, Cao, Zhijian, Gao, Ruixi, Li, Yulei, Chen, Rui, Du, Shiyue, Ma, Tingbin, Wang, Junhan, Xu, Xuan, Liu, Jing Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172206/
https://www.ncbi.nlm.nih.gov/pubmed/33793087
http://dx.doi.org/10.1002/mgg3.1670

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