Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review-Reference-Cited by-同舟云学术

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

Published:2019-07-08 Issue:4 Volume:96 Page:309-316
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Bizaoui Varoona¹^ORCID,Michot Caroline¹,Baujat Geneviève¹,Amouroux Cyril²,Baron Sabine³,Capri Yline⁴,Cohen‐Solal Martine⁵,Collet Corinne⁶,Dieux Anne⁷,Geneviève David⁸,Isidor Bertrand³,Monnot Sophie¹,Rossi Massimiliano⁹¹⁰,Rothenbuhler Anya¹¹,Schaefer Elise¹²,Cormier‐Daire Valérie¹

Affiliation:

1. Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes‐Sorbonne Paris Cité UniversityINSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades Paris France

2. Department of Paediatric EndocrinologyArnaud de Villeneuve Hospital Montpellier France

3. Service de Génétique MédicaleCHU de Nantes Nantes France

4. Genetics Department, AP‐HPRobert‐Debré University Hospital Paris France

5. Department of Rheumatology, Lariboisière HospitalINSERM U1132 and University Paris‐Diderot Paris France

6. Department of BiochemistryAPHP, Saint‐Louis Lariboisière Hospitals Paris France

7. Centre de Référence CLAD NdF, Service de Génétique CliniqueHôpital Jeanne de Flandre CHU Lille France

8. Service de Génétique Clinique et du Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Compétence Maladies Osseuses Constitutionnelles, Inserm U1183Université Montpellier Montpellier France

9. Hospices Civils de Lyon, Service de GénétiqueCentre de Référence Anomalies du Développement Bron France

10. Centre de Recherche en Neurosciences de LyonINSERM U1028, CNRS UMR5292, UCB Lyon 1 Lyon France

11. Department of Paediatric EndocrinologyBicêtre Hospital Paris France

12. Service de Génétique Médicale, Institut de Génétique Médicale d'AlsaceHôpitaux Universitaires de Strasbourg Strasbourg France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13591

Reference34 articles.

1. Pyknodysostosis;Maroteaux P;Press Med,1962

2. Two cases of a condensing osseous disease: pynodysostosis;Maroteaux P;Arch Fr Pediatr,1962

3. Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

4. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

5. Osteopetrosis

Cited by 35 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. Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis;Hormone Research in Paediatrics;2024-06-05

2. Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND;European Journal of Medical Genetics;2024-06

3. Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series;Journal of Clinical Medicine;2024-04-25

4. Pycnodysostosis: Characteristics of teeth, mouth and jaws;Orthodontics & Craniofacial Research;2024-03-26

5. Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature;European Journal of Medical Genetics;2024-02