Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant

BackgroundA novel autosomal recessive skeletal dysplasia resulting from pathogenic variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) has been recently delineated. To date, only three patients have been reported.MethodsIn this study, we reported the clinical and molecular fea...

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Main Authors: Yeqing Yuan (Author), Qiaoli Zhou (Author), Chunli Wang (Author), Wei Zhou (Author), Wei Gu (Author), Bixia Zheng (Author)
Format: Book
Published: Frontiers Media S.A., 2023-01-01T00:00:00Z.
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