A novel mutation in PLS3 causes extremely rare X‐linked osteogenesis imperfecta-Reference-Cited by-同舟云学术

A novel mutation in PLS3 causes extremely rare X‐linked osteogenesis imperfecta

Published:2020-11-09 Issue:12 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Hu Jing¹,Li Lu‐jiao¹²,Zheng Wen‐bin¹,Zhao Di‐chen¹,Wang Ou¹,Jiang Yan¹,Xing Xiao‐ping¹,Li Mei¹^ORCID,Xia Weibo¹

Affiliation:

1. Department of Endocrinology National Health Commission Key Laboratory of EndocrinologyPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical College Beijing China

2. Department of Endocrinology Beijing Friendship HospitalCapital Medical University Beijing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1525

Reference40 articles.

1. Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

2. Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties

3. Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta

4. Bone biology: Insights from osteogenesis imperfecta and related rare fragility syndromes;Besio R.;FEBS Journal,2019

5. From the genetic architecture to synaptic plasticity in autism spectrum disorder

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