Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy

Author:

Rodrigues Bento Jotte1ORCID,Feben Candice2,Kempers Marlies3,Rij Maartje34,Woiski Mallory4,Devriendt Koenraad5,De Catte Luc6,Baldewijns Marcella6,Alaerts Maaike1,Meester Josephina1,Verstraeten Aline1,Hendson Willy7,Loeys Bart13

Affiliation:

1. Centre of Medical Genetics Antwerp University Hospital University of Antwerp Antwerp Belgium

2. Division of Human Genetics National Health Laboratory Service & The School of Pathology University of the Witwatersrand Johannesburg‐Braamfontein South Africa

3. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

4. Department of Gynaecology and Obstetrics Radboud University Medical Center Nijmegen The Netherlands

5. Department of Human Genetics Catholic University of Leuven Leuven Belgium

6. Department of Gynaecology and Obstetrics Catholic University of Leuven Leuven Belgium

7. Department of Paediatrics Rahima Moosa Mother and Child Hospital & The University of the Witwatersrand Johannesburg‐Braamfontein South Africa

Funder

Hartstichting

European Research Council

Marfan Foundation

Fonds Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

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