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Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss
Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue typically caused by defects in either COL1A1 or COL1A2. A number of other genes causative of this disorder have been found, including PPIB, which forms one subunit of the prolyl 3-hydroxylase enzyme complex. Patients with hom...
Uloženo v:
| Vydáno v: | J Pediatr Genet |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Georg Thieme Verlag KG
2014
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| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020983/ https://ncbi.nlm.nih.gov/pubmed/27625864 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14080 |
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