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

BACKGROUND: A 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. METHODS: In this study, we reported the clinical and molecula...

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Detalles Bibliográficos
Autores principales: Yuan, Yeqing, Zhou, Qiaoli, Wang, Chunli, Zhou, Wei, Gu, Wei, Zheng, Bixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874673/
https://www.ncbi.nlm.nih.gov/pubmed/36714646
http://dx.doi.org/10.3389/fped.2022.1056141

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874673/
https://www.ncbi.nlm.nih.gov/pubmed/36714646
http://dx.doi.org/10.3389/fped.2022.1056141

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