Cargando…
An unusual presentation of osteogenesis imperfecta type I
Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one of the genes that encodes the type 1 collagen protein (COL1 A1 and COL1 A2), but it is not a requirement...
Autores principales: | Rebelo, Marta, Lima, Jandira, Vieira, José Diniz, Costa, José Nascimento |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658233/ https://www.ncbi.nlm.nih.gov/pubmed/23754901 http://dx.doi.org/10.2147/IMCRJ.S17929 |
Ejemplares similares
-
Osteogenesis imperfecta: an unusual presentation
por: Patel, Hardik, et al.
Publicado: (2023) -
An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life
por: Shikhrakar, Shreeja, et al.
Publicado: (2022) -
Dentinogenesis imperfecta associated with osteogenesis imperfecta
por: Biria, Mina, et al.
Publicado: (2012) -
Osteogenesis imperfecta type V, spot diagnosis
por: Kozlowski, Kazimierz
Publicado: (2010) -
Osteoporosis Improved by Romosozumab Therapy in a Patient With Type I Osteogenesis Imperfecta
por: Dattagupta, Antara, et al.
Publicado: (2023)