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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Bibliographic Details

Published in:	Frontiers in Endocrinology
Main Authors:	Dongdong Wang, Mengmeng Zhang, Haixia Guan, Xiaoli Wang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2019-03-01
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