Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

Author:

McKenzie Fiona12ORCID,Mina Kym3,Callewaert Bert45,Beyens Aude456,Dickinson Jan E.78,Jevon Gareth9,Papadimitriou John1011,Diness Birgitte Rode1213,Steensberg Jesper Norman14,Ek Jakob12,Baynam Gareth11516

Affiliation:

1. Genetic Services of Western Australia King Edward Memorial Hospital Perth Western Australia Australia

2. School of Paediatrics and Child Health University of Western Australia Perth Western Australia Australia

3. Department of Diagnostic Genomics PathWest Perth Western Australia Australia

4. Center for Medical Genetics Ghent University Hospital Ghent Belgium

5. Department of Biomolecular Medicine Ghent University Ghent Belgium

6. Department of Dermatology Ghent University Hospital Ghent Belgium

7. Maternal Fetal Medicine Service King Edward Memorial Hospital Perth Western Australia Australia

8. Division of Obstetrics and Gynaecology The University of Western Australia Perth Western Australia Australia

9. Department of Paediatric Pathology, PathWest Perth Children's Hospital Perth Western Australia Australia

10. Centre for Orthopaedic Translational Research Medical School, University of Western Australia Nedlands Western Australia Australia

11. Pathwest Laboratories Perth Western Australia Australia

12. Department of Clinical Genetics Rigshospitalet, Copenhagen University Hospital Copenhagen Denmark

13. Department of Clinical Medicine Copenhagen University Copenhagen Denmark

14. Department of Pediatrics Rigshospitalet, Copenhagen University Hospital Copenhagen Denmark

15. The Western Australia Register of Developmental Anomalies, Department of Health Government of Western Australia Perth Western Australia Australia

16. School of Medicine, Division of Paediatrics and Telethon Kids Institute University of Western Australia Perth Western Australia Australia

Funder

Fonds Wetenschappelijk Onderzoek

Bijzonder Onderzoeksfonds UGent

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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