Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
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Author / Creator
Marsh, Ashley P L , Heron, Delphine , Edwards, Timothy J , Quartier, Angélique , Galea, Charles , Nava, Caroline , Rastetter, Agnès , Moutard, Marie-Laure , Anderson, Vicki , Bitoun, Pierre , Bunt, Jens , Faudet, Anne , Garel, Catherine , Gillies, Greta , Gobius, Ilan , Guegan, Justine , Heide, Solveig , Keren, Boris , Lesne, Fabien , Lukic, Vesna , Mandelstam, Simone A , McGillivray, George , McIlroy, Alissandra , Méneret, Aurélie , Mignot, Cyril , Morcom, Laura R , Odent, Sylvie , Paolino, Annalisa , Pope, Kate , Riant, Florence , Robinson, Gail A , Spencer-Smith, Megan , Srour, Myriam , Stephenson, Sarah E M , Tankard, Rick , Trouillard, Oriane , Welniarz, Quentin , Wood, Amanda , Brice, Alexis , Rouleau, Guy , Attié-Bitach, Tania , Delatycki, Martin B , Mandel, Jean-Louis , Amor, David J , Roze, Emmanuel , Piton, Amélie , Bahlo, Melanie , Billette de Villemeur, Thierry , Sherr, Elliott H , Leventer, Richard J , Richards, Linda J , Lockhart, Paul J and Depienne, Christel
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Linda Richards, Paul Lockhart, Christel Depienne and colleagues identify heterozygous
DCC
mutations in four families and five sporadic individuals with agenesis of the corpus callosum (ACC). They report that
DCC
mutations result in variable dominant phenotypes with incomplete penetrance, including mirror movements and ACC associated wit...
Alternative Titles
Full title
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Authors, Artists and Contributors
Author / Creator
Heron, Delphine
Edwards, Timothy J
Quartier, Angélique
Galea, Charles
Nava, Caroline
Rastetter, Agnès
Moutard, Marie-Laure
Anderson, Vicki
Bitoun, Pierre
Bunt, Jens
Faudet, Anne
Garel, Catherine
Gillies, Greta
Gobius, Ilan
Guegan, Justine
Heide, Solveig
Keren, Boris
Lesne, Fabien
Lukic, Vesna
Mandelstam, Simone A
McGillivray, George
McIlroy, Alissandra
Méneret, Aurélie
Mignot, Cyril
Morcom, Laura R
Odent, Sylvie
Paolino, Annalisa
Pope, Kate
Riant, Florence
Robinson, Gail A
Spencer-Smith, Megan
Srour, Myriam
Stephenson, Sarah E M
Tankard, Rick
Trouillard, Oriane
Welniarz, Quentin
Wood, Amanda
Brice, Alexis
Rouleau, Guy
Attié-Bitach, Tania
Delatycki, Martin B
Mandel, Jean-Louis
Amor, David J
Roze, Emmanuel
Piton, Amélie
Bahlo, Melanie
Billette de Villemeur, Thierry
Sherr, Elliott H
Leventer, Richard J
Richards, Linda J
Lockhart, Paul J
Depienne, Christel
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5894478
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5894478
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3794
