Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1670
Abstract: 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,… read more here.
Keywords: severe brain; brain calcification; calcification; brain ... See more keywords