Associated Papers
MBTPS1: a membrane-bound transcription factor protease implicated in the pathogenesis of several skin and skeletal disorders.
Huang H et al.
Functional & Integrative Genomics, 2025
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.
Liaqat K et al.
American Journal of Medical Genetics. Part A, 2024
Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia.
Raggio V et al.
Diagnostics (basel, Switzerland), 2024
Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type.
Chen C et al.
Frontiers in Pediatrics, 2023
Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient.
Alotaibi M et al.
Case Reports in Pediatrics, 2022
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Carvalho DR et al.
American Journal of Medical Genetics. Part A, 2020
A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema.
Schweitzer GG et al.
Molecular Genetics & Genomic Medicine, 2019
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