Article

Novel loss of function variant in SOST from Chinese family results in van Buchem disease

2024-03-07

Abstract excerpt

<title>Abstract</title> <p>Background <italic>SOST</italic> encodes a secreted glycoprotein that is similar in sequence to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function variants of <italic>SOST</italic> result in sclerosteosis, Van Buchem disease (VBD), or craniodiaphyseal dysplasia. <italic>SOST</italic>-relate...

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Identifiers and source

Literature Corpus work: e623ef46-e043-5735-8701-06525b5514af
DOI: 10.21203/rs.3.rs-4003098/v1

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