Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3-Reference-Cited by-同舟云学术

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3

Published:2020-08-18 Issue:11 Volume:182 Page:2685-2693
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Paternoster Lionel¹^ORCID,Soblet Julie²³⁴,Aeby Alec⁵,De Tiège Xavier⁶⁷,Goldman Serge⁶⁷,Yue Wyatt W.⁸,Coppens Sandra²⁹,Smits Guillaume²³⁴,Vilain Catheline²³⁴,Deconinck Nicolas⁵⁹

Affiliation:

1. Faculté de Médecine ULB Université Libre de Bruxelles (ULB) Brussels Belgium

2. Department of Genetics Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles (ULB) Brussels Belgium

3. Department of Genetics Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles (ULB) Brussels Belgium

4. Interuniversity Institute of Bioinformatics in Brussels Université Libre de Bruxelles (ULB) Brussels Belgium

5. Department of Pediatric Neurology Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB) Brussels Belgium

6. Department of Functional Neuroimaging Service of Nuclear Medicine, CUB Hôpital Erasme, Université libre de Bruxelles (ULB) Brussels Belgium

7. Laboratoire de Cartographie fonctionnelle du Cerveau ULB Neuroscience Institute, Université libre de Bruxelles (ULB) Brussels Belgium

8. Nuffield Department of Medicine University of Oxford Oxford UK

9. Neuromuscular Reference Center Université Libre de Bruxelles (ULB) Brussels Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61805

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