Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses-Reference-Cited by-同舟云学术

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

Published:2019-03-28 Issue:5 Volume:95 Page:607-614
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Angius Andrea¹^ORCID,Uva Paolo²,Oppo Manuela¹³,Buers Insa⁴⁵,Persico Ivana¹,Onano Stefano¹³,Cuccuru Gianmauro²,Van Allen Margot I.⁶⁷⁸,Hulait Gurdip⁷,Aubertin Gudrun⁸,Muntoni Francesco⁹¹⁰,Fry Andrew E.¹¹,Annerén Göran¹²,Stattin Eva‐Lena¹²,Palomares‐Bralo María¹³^ORCID,Santos‐Simarro Fernando¹³,Cucca Francesco¹³,Crisponi Giangiorgio¹⁴,Rutsch Frank⁴⁵,Crisponi Laura¹³^ORCID

Affiliation:

1. Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato Cagliari Italy

2. Centre for Advanced StudiesResearch and Development in Sardinia (CRS4), Science and Technology Park Polaris Pula Italy

3. Dipartimento di Scienze BiomedicheUniversità degli Studi di Sassari Sassari Italy

4. Cells in Motion Cluster of ExcellenceMünster University Münster Germany

5. Department of General PediatricsMünster University Children's Hospital Münster Germany

6. Department of Medical GeneticsUniversity of British Columbia Vancouver British Columbia Canada

7. Provincial Health Service AuthorityB.C. Children's and Women's Health Centre Vancouver British Columbia Canada

8. Department of Medical GeneticsVictoria Island Health Authority Vancouver British Columbia Canada

9. Dubowitz Neuromuscular CentreUCL Great Ormond Street Hospital London UK

10. NIHR Biomedical Research Centre at Great Ormond Street Hospital London UK

11. Institute of Medical GeneticsUniversity Hospital of Wales Cardiff UK

12. Department of Immunology, Genetics and PathologyUppsala University, Science for Life Laboratory Uppsala Sweden

13. Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii Madrid Spain

14. Clinica Sant'Anna Cagliari Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13532

Reference16 articles.

1. Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

2. Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

3. Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome

4. Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

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