Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Huanhuan LiangNiu LiRu-En YaoTingting YuLixia DingJing ChenJian WangPublished in: Molecular genetics & genomic medicine (2021)
Our results expand the spectrum of variation of genes related to osteopetrosis and deepen the understanding of the relationship between the genotype and clinical characteristics of osteopetrosis.
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