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

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...

Full description

Bibliographic Details
Main Authors: Dongdong Wang, Mengmeng Zhang, Haixia Guan, Xiaoli Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-03-01
Series:Frontiers in Endocrinology
Subjects:
pituitary stalk interruption syndrome
osteogenesis imperfecta
case report
next generation sequencing
skeletal malformation
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2019.00193/full

Internet

https://www.frontiersin.org/article/10.3389/fendo.2019.00193/full

Similar Items