Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties-Reference-Cited by-同舟云学术

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

Published:2018-05-07 Issue:7 Volume:176 Page:1578-1586
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Balasubramanian Meena¹²^ORCID,Fratzl‐Zelman Nadja³,O'Sullivan Rory⁴,Bull Mary⁵,FA Peel Nicola⁵,Pollitt Rebecca C⁶^ORCID,Jones Rebecca⁷,Milne Elizabeth⁸,Smith Kath⁶,Roschger Paul³,Klaushofer Klaus³,Bishop Nicholas J⁹

Affiliation:

1. Highly Specialised Severe, Complex & Atypical OI ServiceSheffield Children's NHS Foundation Trust UK

2. Sheffield Clinical Genetics ServiceSheffield Children's NHS Foundation Trust UK

3. Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre, Meidling, 1^st Med. Dept. Hanusch Hospital1140 Vienna Austria

4. Medical SchoolUniversity of Sheffield UK

5. Metabolic Bone CentreNorthern General HospitalSheffield UK

6. Sheffield Diagnostic Genetics ServiceSheffield Children's NHS Foundation Trust UK

7. Department of PsychologySheffield Children's NHS Foundation Trust UK

8. Department of PsychologyUniversity of Sheffield UK

9. Academic Unit of Child HealthUniversity of Sheffield UK

Funder

Newlife Foundation for Disabled Children

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38830

Reference26 articles.

1. Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation inLRP5

2. Bone Material Properties in Osteogenesis Imperfecta

3. Dalgleish R.(2017).Osteogenesis Imperfecta Variant Database: PLS3. Available from:https://oi.gene.le.ac.uk/home.php?select_db=PLS3[Accessed 15 December 2017]

4. PLS3 Mutations in X-Linked Osteoporosis with Fractures

5. Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

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