The location of DCX mutations predicts malformation severity in X-linked lissencephaly

Neurogenetics

Volumn 9, Issue 4, 2008, Pages 277-285

  Leger, Pierre Louis ^a   Souville, Isabelle ^b   Boddaert, Nathalie ^c,d   Elie, Caroline ^c   Pinard, Jean Marc ^e   Plouin, Perrine ^c   Moutard, Marie Laure ^f   Des Portes, Vincent ^g   Van Esch, Hilde ^h   Joriot, Sylvie ⁱ   Renard, Jean Louis ^j   Chelly, Jamel ^b,k   Francis, Fiona ^k   Beldjord, Cherif ^b,k   Bahi Buisson, Nadia ^a,k  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b CEA ^*  (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d DIF   (France)

^e RAYMOND POINCARÉ HOSPITAL   (France)

^f ARMAND TROUSSEAU HOSPITAL   (France)

^g UNIVERSITÉ DE LYON   (France)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁱ LILLE UNIVERSITY HOSPITAL   (France)

^j University of Paris Descartes   (France)

^k INSTITUT COCHIN   (France)

more..

Author keywords

Doublecortin; Lissencephaly; Migrational disorders; X linked

Indexed keywords

DOUBLECORTIN;

ADULT; AGYRIA; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COGNITIVE DEFECT; DIAGNOSTIC IMAGING; DISEASE SEVERITY; EPILEPSY; GENE LOCATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMIZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PACHYGYRIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WALKING DIFFICULTY; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; MUTATION, MISSENSE; NEUROPEPTIDES; PHENOTYPE;

EID: 52649086308     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0141-5     Document Type: Article

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