Associated Papers
SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.
Zhang J et al.
Communications Biology, 2025
Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.
Burrill N et al.
American Journal of Medical Genetics. Part A, 2025
Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China.
Wang Y et al.
Frontiers in Genetics, 2023
Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations.
Miao Y et al.
Frontiers in Pediatrics, 2022
Craniofacial Diseases Caused by Defects in Intracellular Trafficking.
Lu CL et al.
Genes, 2021
Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up.
Xi L et al.
Frontiers in Genetics, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.
Takeyari S et al.
American Journal of Medical Genetics. Part A, 2018
Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.
Zhang H et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
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