Associated Papers
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.
Lucas-Castro E et al.
Clinical Genetics, 2025
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
Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant.
Yuan Y et al.
Frontiers in Pediatrics, 2022
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Meyer R et al.
Orphanet Journal of Rare Diseases, 2021
33482836 (PubMed )
Supplement: 13023_2021_1683_MOESM4_ESM.docx
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.
Meyer R et al.
American Journal of Medical Genetics. Part A, 2020
Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.
Kondo Y et al.
Jci Insight, 2018
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