COL1 ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap-Reference-Cited by-同舟云学术

COL1 ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Published:2019-12-12 Issue:3 Volume:97 Page:396-406
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Morlino Silvia¹,Micale Lucia²^ORCID,Ritelli Marco³,Rohrbach Marianne⁴,Zoppi Nicoletta³,Vandersteen Anthony⁵,Mackay Sara⁵,Agolini Emanuele⁶^ORCID,Cocciadiferro Dario⁶,Sasaki Erina⁷,Madeo Annalisa⁸,Ferraris Alessandro¹,Reardon Willie⁷,Di Rocco Maja⁸^ORCID,Novelli Antonio⁶,Grammatico Paola¹,Malfait Fransiska⁹,Mazza Tommaso¹⁰,Hakim Alan¹¹,Giunta Cecilia¹²,Colombi Marina³^ORCID,Castori Marco²^ORCID

Affiliation:

1. Laboratory of Medical Genetics, Department of Molecular MedicineSapienza University, San Camillo‐Forlanini Hospital Rome Italy

2. Division of Medical GeneticsFondazione IRCCS‐Casa Sollievo della Sofferenza San Giovanni Rotondo (Foggia) Italy

3. Division of Biology and Genetics, Department of Molecular and Translational MedicineUniversity of Brescia Brescia Italy

4. Division of Metabolism and Children's Research CentreUniversity Children's Hospital Zurich Switzerland

5. Maritime Medical Genetics ServiceDalhousie University Halifax Canada

6. Laboratory of Medical GeneticsIRCCS Bambino Gesù Children Hospital Rome Italy

7. Department of Clinical GeneticsChildren's Health Ireland (CHI) at Crumlin Crumlin Ireland

8. Unit of Rare DiseasesIRCCS Institute Gianna Gaslini Genoa Italy

9. Center for Medical GeneticsGhent University Ghent Belgium

10. Unit of BioinformaticsFondazione IRCCS‐Casa Sollievo della Sofferenza San Giovanni Rotondo (Foggia) Italy

11. The Platinum Medical CenterThe Wellington Hospital London UK

12. Connective Tissue Unit, Division of Metabolism and Children's Research CentreUniversity Children's Hospital Zurich Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13683

Reference32 articles.

1. The 2017 international classification of the Ehlers-Danlos syndromes

2. Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

3. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1 : Report on a three-generation family without cardiovascular events, and literature review

4. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

5. The Ehlers-Danlos syndromes, rare types

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