Primrose syndrome: Characterization of the phenotype in 42 patients-Reference-Cited by-同舟云学术

Primrose syndrome: Characterization of the phenotype in 42 patients

Published:2020-04-20 Issue:6 Volume:97 Page:890-901
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Melis Daniela¹²^ORCID,Carvalho Daniel³,Barbaro‐Dieber Tina⁴,Espay Alberto J.⁵,Gambello Michael J.⁶,Gener Blanca⁷,Gerkes Erica⁸,Hitzert Marrit M.⁸,Hove Hanne B.⁹,Jansen Sandra¹⁰,Jira Petr E.¹¹,Lachlan Katherine¹²,Menke Leonie A.¹³,Narayanan Vinodh¹⁴^ORCID,Ortiz Damara¹⁵,Overwater Eline¹⁶,Posmyk Renata¹⁷,Ramsey Keri¹⁴,Rossi Alessandro²,Sandoval Renata Lazari²,Stumpel Constance¹⁸,Stuurman Kyra E.¹⁹,Cordeddu Viviana²⁰,Turnpenny Peter²¹,Strisciuglio Pietro²,Tartaglia Marco²²,Unger Sheela²³,Waters Todd²⁴,Turnbull Clare²⁵,Hennekam Raoul C.¹³^ORCID

Affiliation:

1. Department of MedicineSurgery and Dentistry “Scuola Medica Salernitana” Salerno Italy

2. Department of Translational Medical ScienceFederico II University Naples Italy

3. Medical Genetic UnitSARAH Network of Rehabilitation Hospitals Brasilia Brazil

4. Cooks Children's Genetics Fort Worth Texas USA

5. Department of NeurologyUniversity of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders Cincinnati Ohio USA

6. Department of Human GeneticsEmory University School of Medicine Atlanta Georgia USA

7. Department of GeneticsBioCruces Bizkaia Health Research Institute, Hospital Universitario Cruces Bizkaia Spain

8. Department of GeneticsUniversity of Groningen, UMC Groningen Groningen The Netherlands

9. Department of Pediatrics, Division of Rare DiseasesRigshospitalet, Copenhagen University Hospital Copenhagen Denmark

10. Department of Human GeneticsRadboud UMC Nijmegen The Netherlands

11. Department of Pediatrics, Jeroen Bosch Hospital 's‐Hertogenbosch The Netherlands

12. Wessex Clinical Genetics ServiceUniversity Hospitals of Southampton NHS Trust Southampton UK

13. Department of PediatricsAmsterdam UMC Amsterdam The Netherlands

14. Translational Genomic Research Institute, Center for Rare Childhood Disorders Phoenix Arizona USA

15. Medical Genetics DepartmentUPMC Children's Hospital of Pittsburgh Pittsburgh Pensylvania USA

16. Department of Clinical GeneticsAmsterdam UMC, University of Amsterdam Amsterdam The Netherlands

17. Department of Clinical GeneticsPodlaskie Medical Center Bialystok Poland

18. Department of Clinical Genetics and GROW School for Oncology and Developmental BiologyMaastricht UMC Maastricht The Netherlands

19. Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands

20. Department of Hematology, Oncology and Molecular Medicine, National Center for Drug Research and Evaluation, Istituto Superiore di Sanità Rome Italy

21. Clinical Genetics Department, Royal Devon & Exeter Healthcare NHS Exeter UK

22. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù Rome Italy

23. Division of Genetic MedicineUniversity of Lausanne Lausanne Switzerland

24. North Florida Regional Medical Center, Gainesville Florida USA

25. Division of Genetics and EpidemiologyInstitute of Cancer Research London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13749

Reference36 articles.

1. A slowly progressive degenerative condition characterized by mental deficiency, wasting of limb musculature and bone abnormalities, including ossification of the pinnae;Primrose DA;J Ment Defic Res,1982

2. The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: report of a second case;Collacott RA;J Ment Defic Res,1986

3. A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: ???Primrose syndrome???

4. The Primrose syndrome with progressive neurological involvement and cerebral calcification

5. Testicular cancer in a patient with Primrose syndrome

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