| 概要 |
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding.
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| 著者 |
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, Riviere JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M |
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| タイトル |
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. |
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| 著者 |
Reis LM, Houssin NS, Zamora C, Abdul-Rahman O, Kalish JM, Zackai EH, Plageman TF Jr, Semina EV |
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