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Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and skeletal malformation due to abnormal synthesis or dysfunction of type I collagen protein. Pituitary stalk interruption syndrome (PSIS) is usually associated with environment...

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Detalles Bibliográficos
Autores principales:	Wang, Dongdong, Zhang, Mengmeng, Guan, Haixia, Wang, Xiaoli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447649/ https://www.ncbi.nlm.nih.gov/pubmed/30984112 http://dx.doi.org/10.3389/fendo.2019.00193

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