Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2-Reference-Cited by-同舟云学术

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Published:2018-01-04 Issue:4 Volume:33 Page:753-760
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Leal Gabriela Ferraz¹²,Nishimura Gen³,Voss Ulrika⁴,Bertola Débora Romeo⁵⁶,Åström Eva⁷⁸,Svensson Johan⁹,Yamamoto Guilherme Lopes⁵⁶,Hammarsjö Anna¹⁰¹¹,Horemuzova Eva⁸¹²,Papadogiannakis Nikos¹³,Iwarsson Erik¹⁰¹¹,Grigelioniene Giedre¹⁰¹¹,Tham Emma¹⁰¹¹

Affiliation:

1. Centro Integrado de Saúde Amaury de Medeiros; Universidade de Pernambuco; Recife Brazil

2. Instituto de Medicina Integral Prof Fernando Figueira; Recife Brazil

3. Intractable Disease Center; Saitama Medical University Hospital; Saitama Japan

4. Department of Pediatric Radiology; Karolinska University Hospital; Stockholm Sweden

5. Unidade de Genética Clínica; Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo; São Paulo Brazil

6. Instituto de Biociências da Universidade de São Paulo; São Paulo Brazil

7. Pediatric Neurology and Musculoskeletal Disorders and Home Care; Astrid Lindgren Children's Hospital at Karolinska University Hospital; Stockholm Sweden

8. Department of Women's and Children's Health; Karolinska Institutet; Stockholm Sweden

9. Department of Paediatrics; Skåne University Hospital, Lund University; Lund Sweden

10. Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden

11. Department of Clinical Genetics; Karolinska University Hospital Stockholm; Stockholm Sweden

12. Paediatric Endocrinology Unit; Karolinska University Hospital; Stockholm Sweden

13. Department of Pathology; Karolinska University Hospital and Karolinska Institutet; Stockholm Sweden

Funder

Stockholms Läns Landsting

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.3348/fullpdf

Reference27 articles.

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2. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene;Salo;Am J Hum Genet,2008

3. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome;Kelley;J Bone Miner Res,2011

4. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis;van der Slot;J Biol Chem,2003

5. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta;Caparros-Martin;Mol Genet Genomic Med,2017

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