|
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities |
|
|
|
Titel: |
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities |
Auteur: |
Jeanne, Médéric Demory, Hélène Moutal, Aubin Vuillaume, Marie-Laure Blesson, Sophie Thépault, Rose-Anne Marouillat, Sylviane Halewa, Judith Maas, Saskia M. Motazacker, M. Mahdi Mancini, Grazia M.S. van Slegtenhorst, Marjon A. Andreou, Avgi Cox, Helene Vogt, Julie Laufman, Jason Kostandyan, Natella Babikyan, Davit Hancarova, Miroslava Bendova, Sarka Sedlacek, Zdenek Aldinger, Kimberly A. Sherr, Elliott H. Argilli, Emanuela England, Eleina M. Audebert-Bellanger, Séverine Bonneau, Dominique Colin, Estelle Denommé-Pichon, Anne-Sophie Gilbert-Dussardier, Brigitte Isidor, Bertrand Küry, Sébastien Odent, Sylvie Redon, Richard Khanna, Rajesh Dobyns, William B. Bézieau, Stéphane Honnorat, Jérôme Lohkamp, Bernhard Toutain, Annick Laumonnier, Frédéric |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 108 () nr. 5 pagina's 951-961 |
Jaar: |
2021 |
Inhoud: |
|
Uitgever: |
American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
|
|
|
|