CHRNG ‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings-Reference-Cited by-同舟云学术

CHRNG ‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Published:2019-03-14 Issue:6 Volume:179 Page:915-926
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Carrera‐García Laura¹²,Natera‐de Benito Daniel¹²^ORCID,Dieterich Klaus³^ORCID,Banda Marta G. G.⁴^ORCID,Felter Adrien⁵,Inarejos Emili⁶,Codina Anna¹²,Jou Cristina¹²⁷,Roldan Monica⁸,Palau Francesc⁹¹⁰¹¹¹²,Hoenicka Janet¹⁰¹³,Pijuan Jordi¹⁰,Ortez Carlos¹²,Expósito‐Escudero Jessica¹²,Durand Chantal¹⁴,Nugues Frédérique¹⁴,Jimenez‐Mallebrera Cecilia¹²,Colomer Jaume¹²,Carlier Robert Y.⁵,Lochmüller Hanns¹⁵¹⁶¹⁷,Quijano‐Roy Susana⁴,Nascimento Andres¹²

Affiliation:

1. Neuromuscular Unit, Neuropaediatrics DepartmentInstitut de Recerca Hospital Universitari Sant Joan de Deu Barcelona Spain

2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII Barcelona Spain

3. Département de Génétique et ProcréationCHU de Grenoble Alpes Grenoble Cedex 9 France

4. Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and RehabilitationRaymond Poincaré University Hospital (AP‐HP; UVSQ Paris Saclay) Garches France

5. Department of Medical RadiologyRaymond Poincaré University Hospital (AP‐HP; UVSQ Paris Saclay) Garches France

6. Department of RadiologyHospital Universitari Sant Joan de Deu Barcelona Spain

7. Department of PathologyHospital Sant Joan de Deu Barcelona Spain

8. Confocal Microscopy Unit, Department of PathologyHospital Sant Joan de Déu Barcelona Spain

9. Department of Genetic and Molecular MedicineHospital Sant Joan de Déu Barcelona Spain

10. Laboratory of Neurogenetics and Molecular MedicineInstitut de Recerca Sant Joan de Déu Barcelona Spain

11. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Barcelona Spain

12. Division of PediatricsUniversity of Barcelona School of Medicine Barcelona Spain

13. Centro de Investigación Biomédica en Salud Mental (CIBERSAM) Barcelona Spain

14. Department of RadiologyCHU de Grenoble Alpes Grenoble France

15. Department of Neuropediatrics and Muscle DisordersMedical Center – University of Freiburg, Faculty of Medicine Freiburg Germany

16. Centro Nacional de Análisis Genómico (CNAG‐CRG), Center for Genomic RegulationBarcelona Institute of Science and Technology (BIST) Barcelona Spain

17. Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada and Division of Neurology, Department of MedicineThe Ottawa Hospital Ottawa Ontario Canada

Funder

FP7 Health

Instituto de Salud Carlos III

European Regional Development Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61122

Reference28 articles.

1. Is Webbing (Pterygia) a Constant Feature in Patients with Escobar Syndrome?