Whole Exome Sequencing Identifies Mutations in the Nucleoside Transporter Gene SLC29A3 in Dysosteosclerosis, a Form of Osteopetrosis

Volume: 21, Issue: 22, Pages: 4904 - 4909
Published: Nov 15, 2012
Abstract
Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses. At the histopathological level, there is a paucity of osteoclasts when the disease presents. In two patients with DSS, we identified homozygous or compound heterozygous missense mutations in SLC29A3 by whole-exome...
Paper Details
Title
Whole Exome Sequencing Identifies Mutations in the Nucleoside Transporter Gene SLC29A3 in Dysosteosclerosis, a Form of Osteopetrosis
Published Date
Nov 15, 2012
Volume
21
Issue
22
Pages
4904 - 4909
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