Associated Papers
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.
Abegglen O et al.
American Journal of Medical Genetics. Part A, 2025
Recurrent adnexal torsion in a teenager with hypermobile Ehlers-Danlos syndrome: A case report.
Panagiotopoulos M et al.
Case Reports in Women's Health, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Sobering AK et al.
Hgg Advances, 2022
35469323 (PubMed )
Supplement: mmc1.pdf
Perthes Disease in a Child With Osteogenesis Imperfecta From a Rare Genetic Variant: A Case Report.
Hong P et al.
Frontiers in Genetics, 2022
Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis.
Masoodi TA et al.
Archives of Medical Science : Ams, 2013
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