A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta.
El-Gazzar A, Mayr JA, Voraberger B, Brugger K, Blouin S, Tischlinger K, Duba HC, Prokisch H, Fratzl-Zelman N, Högler W.
El-Gazzar A, et al.
Bone Rep. 2021 Jul 26;15:101110. doi: 10.1016/j.bonr.2021.101110. eCollection 2021 Dec.
Bone Rep. 2021.
PMID: 34381850
Free PMC article.
Establishing the molecular genetic cause of his condition proved difficult since clinical exome and whole exome analysis was repeatedly reported negative. Finally, manual analysis of exome data revealed a silent COL1A2 variant c.3597 T > A (NM_000089.4), which we demons …
Establishing the molecular genetic cause of his condition proved difficult since clinical exome and whole exome analysis was repeatedly repo …