A homozygous deleteriousCDK10mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness

Author:

Guen Vincent J.1,Edvardson Simon23,Fraenkel Nitay D.4,Fattal-Valevski Aviva5,Jalas Chaim6,Anteby Irene7,Shaag Avraham2,Dor Talia3,Gillis David8,Kerem Eitan8,Lees Jacqueline A.1,Colas Pierre9,Elpeleg Orly2ORCID

Affiliation:

1. David H. Koch Institute for Integrative Cancer Research; Massachusetts Institute of Technology; Cambridge Massachusetts

2. Monique and Jacques Roboh Department of Genetic Research; Hadassah Medical Center; Hebrew University of Jerusalem; Jerusalem Israel

3. Pediatric Neurology Unit; Hadassah Medical Center; Hebrew University of Jerusalem; Jerusalem Israel

4. Department of Respiratory Rehabilitation; Alyn Hospital; Jerusalem Israel

5. Pediatric Neurology Unit; Dana-Dwek Children's Hospital; Tel Aviv Medical Center and Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

6. Bonei Olam; Center for Rare Jewish Genetic Disorders; Brooklyn New York

7. Department of Ophthalmology; Hadassah Medical Center; Hebrew University of Jerusalem; Jerusalem Israel

8. Department of Pediatrics; Hadassah Medical Center; Hebrew University of Jerusalem; Jerusalem Israel

9. P 2 I 2 Group, Protein Phosphorylation and Human Disease Laboratory, Station Biologique de Roscoff; Centre National de la Recherche Scientifique and Université Pierre et Marie Curie; Roscoff France

Funder

The Philippe Foundation

The Koch Institute

The Ludwig Foundation

The Trudy Mandel Louis Charitable Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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