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Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Eur J Hum Genet. 2023 Jul;31(7):749-760. doi: 10.1038/s41431-023-01343-7. Epub 2023 Mar 29.
Eur J Hum Genet. 2023.
PMID: 36977837
Free PMC article.
Review.
Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.
Strang-Karlsson S, Keigwin S, Anttonen AK, Baker D, Bean K, Jakkula E.
Strang-Karlsson S, et al. Among authors: keigwin s.
Clin Case Rep. 2022 Oct 11;10(10):e6455. doi: 10.1002/ccr3.6455. eCollection 2022 Oct.
Clin Case Rep. 2022.
PMID: 36245460
Free PMC article.
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High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.
Campanini EH, Baker D, Arundel P, Bishop NJ, Offiah AC, Keigwin S, Cadden S, Dall'Ara E, Nicolaou N, Giles S, Fernandes JA, Balasubramanian M.
Campanini EH, et al. Among authors: keigwin s.
Bone Rep. 2021 Jul 1;15:101102. doi: 10.1016/j.bonr.2021.101102. eCollection 2021 Dec.
Bone Rep. 2021.
PMID: 34277895
Free PMC article.
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