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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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Bibliografiske detaljer
Udgivet i:Front Endocrinol (Lausanne)
Main Authors: Wang, Dongdong, Zhang, Mengmeng, Guan, Haixia, Wang, Xiaoli
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6447649/
https://ncbi.nlm.nih.gov/pubmed/30984112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2019.00193
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