Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

出版年份 2018 全文链接

标题

作者

关键词

TCIRG1, SLC29A3, Autosomal recessive osteopetrosis, Dysosteosclerosis, Platyspondyly, Next generation sequencing

出版物

BONE

Volume 120, Issue -, Pages 495-503

出版商

Elsevier BV

发表日期

2018-12-08

DOI

10.1016/j.bone.2018.12.002

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