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Shaping and managing the course of a child's disease: Parental experiences with osteogenesis imperfecta

✍ Scribed by Dogba, Maman Joyce; Rauch, Frank; Tre, Ghislaine; Glorieux, Francis H.; Bedos, Christophe


Book ID
122721145
Publisher
Elsevier
Year
2014
Tongue
English
Weight
568 KB
Volume
7
Category
Article
ISSN
1936-6574

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πŸ“œ SIMILAR VOLUMES


Recurrence of lethal osteogenesis imperf
✍ Matthew J. Edwards; Richard J. Wenstrup; Peter H. Byers; Daniel H. Cohn πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 657 KB

We have determined that a man, ascertained because he fathered a child with lethal osteogenesis imperfecta (01) with each of two partners, is mosaic in both his germline and somatic tissues for a mutation in the COLlA2 gene which encodes the proa2(I) chain of type I procollagen. His dermal fibroblas