Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Authors :: Ivanova, E.L.
Mau-Them, F.T.
Riazuddin, S.
Kahrizi, K.
Laugel, V.
Saint Martin, A.
Iqbal, Z.
Spitz, M.A.
Laura, M.
Drouot, N.
Deleuze, J.F.
Brouwer, A.P.M. de
Razzaq, A.
Dollfus, H.
Assir, M.Z.
Nitchke, P.
Hinckelmann, M.V.
Ropers, H.H.
Najmabadi, H.
Bokhoven, H. van
Chelly, J.
Ivanova, E.L.
Mau-Them, F.T.
Riazuddin, S.
Kahrizi, K.
Laugel, V.
Saint Martin, A.
Iqbal, Z.
Spitz, M.A.
Laura, M.
Drouot, N.
Deleuze, J.F.
Brouwer, A.P.M. de
Razzaq, A.
Dollfus, H.
Assir, M.Z.
Nitchke, P.
Hinckelmann, M.V.
Ropers, H.H.
Najmabadi, H.
Bokhoven, H. van
Chelly, J.
Source :: American Journal of Human Genetics; 428; 440; 0002-9297; 3; 101; ~American Journal of Human Genetics~428~440~~~0002-9297~3~101~~
Publication Year :: 2017
Abstract: Item does not contain fulltext

Database :: OAIster
Journal :: American Journal of Human Genetics; 428; 440; 0002-9297; 3; 101; ~American Journal of Human Genetics~428~440~~~0002-9297~3~101~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1285260089
Document Type :: Electronic Resource

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