原发性家族型脑钙化相关基因

Pathogenic variants in SLC20A2 are the most common form of autosomal dominant PFBC.

Heterozygous variants in PDGFB, PDGRB, and XPR1 are also associated with PFBC, whereas both heterozygous and biallelic variants in MYORG are also associated with PBFC.

Recently, a second autosomal recessive PFBC syndrome was reported to be associated with variants in JAM2. 5

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作者:lzchen
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