More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome-Reference-Cited by-同舟云学术

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Published:2021-04-06 Issue:6 Volume:42 Page:711-730
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Dhooge Tibbe¹^ORCID,Van Damme Tim¹^ORCID,Syx Delfien¹^ORCID,Mosquera Laura M.¹²^ORCID,Nampoothiri Sheela³^ORCID,Radhakrishnan Anil⁴^ORCID,Simsek‐Kiper Pelin O.⁵^ORCID,Utine Gülen E.⁵^ORCID,Bonduelle Maryse⁶^ORCID,Migeotte Isabelle⁷^ORCID,Essawi Osama¹,Ceylaner Serdar⁸^ORCID,Al Kindy Adila⁹,Tinkle Brad¹⁰,Symoens Sofie¹^ORCID,Malfait Fransiska¹^ORCID

Affiliation:

1. Department of Biomolecular Medicine, Center for Medical Genetics Ghent University Hospital, Ghent University Ghent Belgium

2. Divison of Pediatric Cardiology, Department of Pediatrics Ghent University Hospital Ghent Belgium

3. Department of Pediatric Genetics Amrita Institute of Medical Sciences & Research Centre Cochin Kerala India

4. Department of Ophthalmology Amrita Institute of Medical Sciences & Research Centre Cochin Kerala India

5. Department of Pediatric Genetics Hacettepe University Ankara Turkey

6. Centre for Medical Genetics Universitair Ziekenhuis Brussel Brussels Belgium

7. Center of Human Genetics Université Libre de Bruxelles Brussels Belgium

8. Intergen Genetic Research Center Ankara Turkey

9. Department of Genetics, College of Medicine Sultan Qaboos University Muscat Sultanate of Oman

10. Division of Medical Genetics Peyton Manning Children's Hospital Indianapolis Indiana USA

Funder

Fonds Wetenschappelijk Onderzoek

Universiteit Gent

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24199

Reference68 articles.

1. Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

2. Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24

3. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

4. A novel mutation in PRDM5 in brittle cornea syndrome

5. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): Report on 23 patients and review of the literature

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