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Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation

✍ Scribed by Takahiro Yamada; Masaki Takagi; Gen Nishimura; Rina Akaishi; Itsuko Furuta; Mamoru Morikawa; Takashi Yamada; Kazutoshi Cho; Hideaki Sawai; Shiro Ikegawa; Tomonobu Hasegawa; Hisanori Minakami

Book ID
115549423
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
364 KB
Volume
158A
Category
Article
ISSN
1552-4825

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πŸ“œ SIMILAR VOLUMES

Paternal mosaicism for a COL1A1 dominant
Paternal mosaicism for a COL1A1 dominant mutation (Ξ±1 Ser-415) causes recurrent osteogenesis imperfecta
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Communicated by Peter H. Byers We describe a dominant point mutation in the C O L l A l gene causing extremely severe osteogenesis imperfecta (01 type IMII) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation. Type I collagen secretion was

Thirty-three novel COL1A1 and COL1A2 mut
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Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in t