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

Published 2018 View Full Article

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Title
Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1
Authors
Keywords
TCIRG1, SLC29A3, Autosomal recessive osteopetrosis, Dysosteosclerosis, Platyspondyly, Next generation sequencing
Journal
BONE
Volume 120, Issue -, Pages 495-503
Publisher
Elsevier BV
Online
2018-12-08
DOI
10.1016/j.bone.2018.12.002

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