Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta-Reference-Cited by-同舟云学术

Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta

Published:2015-10-15 Issue:2 Volume:170 Page:476-481
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Balasubramanian Meena¹,Cartwright Ashley²,Smith Kath²,Arundel Paul³,Bishop Nicholas J.³

Affiliation:

1. Sheffield Clinical Genetics Service; Sheffield Children's NHS Foundation Trust; United Kingdom

2. Sheffield Diagnostic Genetics Service; Sheffield Children's NHS Foundation Trust; United Kingdom

3. Academic Unit of Child Health; University of Sheffield; United Kingdom

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37431/fullpdf

Reference14 articles.

1. A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay;Atack;Mol Syndromol,2014

2. Ultrastructural and histological findings on examination of skin in osteogenesis imperfect: A novel study;Balasubramanian;Clin Dysmorphol,2015

3. First clinical case of small de novo duplication of 19q (13. 3-13. 4) confirmed by FISH;Bhat;Am J Med Genet Part A,2000

4. Osteogenesis imperfecta: Translation of mutation to phenotype;Byers;J Med Genet,1991

5. 19q13.33-qter trisomy in a girl with intellectual impairment and seizures;Carvalheira;Meta Gene,2014

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen;Journal of Bone and Mineral Research;2022-09

2. Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents;Molecular Syndromology;2020

3. Autism and heritable bone fragility: A true association?;Bone Reports;2018-06

4. Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta;Colloquium Series on Genomic and Molecular Medicine;2017-01-26