Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Nature Genetics

Volumn 49, Issue 4, 2017, Pages 511-514

  Marsh, Ashley P L ^a,b   Heron, Delphine ^c,d,e   Edwards, Timothy J ^f   Quartier, Angélique ^g   Galea, Charles ^h   Nava, Caroline ^c,d   Rastetter, Agnès ^d   Moutard, Marie Laure ^d,i,j   Anderson, Vicki ^k   Bitoun, Pierre ^l   Bunt, Jens ^f   Faudet, Anne ^c   Garel, Catherine ⁱ   Gillies, Greta ^a   Gobius, Ilan ^f   Guegan, Justine ^m   Heide, Solveig ^c,d   Keren, Boris ^c,d   Lesne, Fabien ^c   Lukic, Vesna ⁿ   Mandelstam, Simone A ^b,o   McGillivray, George ^k   McIlroy, Alissandra ^k   Méneret, Aurélie ^c,d   Mignot, Cyril ^c,d,e   Morcom, Laura R ^f   Odent, Sylvie ^p,q   Paolino, Annalisa ^f   Pope, Kate ^a   Riant, Florence ^r   Robinson, Gail A ^f,h   Spencer Smith, Megan ^k,m   Srour, Myriam ^s,t   Stephenson, Sarah E M ^a,b   Tankard, Rick ^b,n   Trouillard, Oriane ^d   Welniarz, Quentin ^d   Wood, Amanda ^k,u   Brice, Alexis ^c,d   Rouleau, Guy ^t,v   Attié Bitach, Tania ^w,x   Delatycki, Martin B ^a,b,y   Mandel, Jean Louis ^g,z   Amor, David J ^a,b   Roze, Emmanuel ^c,d   Piton, Amélie ^g,z   Bahlo, Melanie ^b,n   Billette De Villemeur, Thierry ^d,e,i,aa   Sherr, Elliott H ^ab   Leventer, Richard J ^b,k   Richards, Linda J ^f   Lockhart, Paul J ^a,b   Depienne, Christel ^c,d,g,z   more..

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e Centre de Rèfèrence 'dè Ficiences Intellectuelles de Causes Rares   (France)

^f UNIVERSITY OF QUEENSLAND   (Australia)

^g UNIVERSITÉ DE STRASBOURG   (France)

^h MONASH UNIVERSITY   (Australia)

ⁱ ARMAND TROUSSEAU HOSPITAL   (France)

^j Microangiopathies Thrombotiques de l'Adulte et de l'Enfant (MAT)   (France)

^k MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^l HÔPITAL JEAN VERDIER   (France)

^m ICM   (France)

ⁿ WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^o FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^p RENNES UNIVERSITY HOSPITAL   (France)

^q UNIVERSITÉ DE RENNES 1   (France)

^r ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^s MONTREAL CHILDREN S HOSPITAL   (Canada)

^t MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^u ASTON UNIVERSITY   (United Kingdom)

^v MCGILL UNIVERSITY   (Canada)

^w IMAGINE INSTITUTE   (France)

^x HÔPITAL NECKER ENFANTS MALADES   (France)

^y VICTORIAN CLINICAL GENETICS SERVICES   (Australia)

^z UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^aa INSERM   (France)

^ab UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MESSENGER RNA; NETRIN 1; TESTOSTERONE; CELL SURFACE RECEPTOR; DCC PROTEIN, HUMAN; NETRIN RECEPTOR DCC; TUMOR SUPPRESSOR PROTEIN;

ANTERIOR COMMISSURE; ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CORPUS CALLOSUM AGENESIS; DCC GENE; DIFFUSION WEIGHTED IMAGING; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HUMAN; LINKAGE ANALYSIS; MALE; NEUROIMAGING; NONSENSE MUTATION; OPTIC CHIASM; PHENOTYPE; POSTERIOR COMMISSURE; PRENATAL DEVELOPMENT; PRIORITY JOURNAL; SUPERIOR CEREBELLAR PEDUNCLE; WHOLE EXOME SEQUENCING; BRAIN; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; FAMILY; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NERVOUS SYSTEM MALFORMATION; NEURAL STEM CELL; PATHOLOGY; PENETRANCE;

ABNORMALITIES, MULTIPLE; AGENESIS OF CORPUS CALLOSUM; BRAIN; CORPUS CALLOSUM; DCC RECEPTOR; DEVELOPMENTAL DISABILITIES; FAMILY; FEMALE; HUMANS; MALE; MUTATION; NERVOUS SYSTEM MALFORMATIONS; NEURAL STEM CELLS; PENETRANCE; PHENOTYPE; RECEPTORS, CELL SURFACE; TUMOR SUPPRESSOR PROTEINS;

EID: 85014076089     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3794     Document Type: Article

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