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: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-01-01T00:00:00Z.
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