A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

European Journal of Human Genetics

Volumn 24, Issue 6, 2016, Pages 838-843

  Mosca Boidron, Anne Laure ^a,b   Gueneau, Lucie ^b   Huguet, Guillaume ^c,d,e   Goldenberg, Alice ^f   Henry, Céline ^a   Gigot, Nadge ^b   Pallesi Pocachard, Emilie ^g   Falace, Antonio ^g   Duplomb, Laurence ^b   Thevenon, Julien ^b,h   Duffourd, Yannis ^b   ST Onge, Judith ^a,b   Chambon, Pascal ^f   Rivire, Jean Baptiste ^a,b   Thauvin Robinet, Christel ^b,h   Callier, Patrick ^a,b   Marle, Nathalie ^a,b   Payet, Muriel ^a,b   Ragon, Clemence ^a,b   Botros, Hany Goubran ^c,d,e   Buratti, Julien ^c,d,e,i   Calderari, Sophie ^c,d,e,i   Dumas, Guillaume ^c,d,e   Delorme, Richard ^c,d,e,j   Lagarde, Nathalie ^a   Pinoit, Jean Michel ^a   Rosier, Antoine ^k   Masurel Paulet, Alice ^h   Cardoso, Carlos ^g   Mugneret, Francine ^a   Saugier Veber, Pascale ^l   Campion, Dominique ^l   Faivre, Laurence ^b,h   Bourgeron, Thomas ^c,d,e,i   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE BOURGOGNE   (France)

^c INSTITUT PASTEUR   (France)

^d INSTITUT PASTEUR   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f ROUEN UNIVERSITY HOSPITAL   (France)

^g Turing Center for Living Systems CENTURI Aix Marseille University   (France)

^h Medical University of Dijon   (France)

ⁱ FONDATION FONDAMENTAL   (France)

^j HÔPITAL ROBERT DEBRÉ   (France)

^k Centre de Ressources Autisme de Haute Normandie   (France)

^l UNIVERSITY OF ROUEN   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SEMAPHORIN; SEMAPHORIN 5A; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; NERVE PROTEIN; SEMA5A PROTEIN, HUMAN;

ARTICLE; AUTISM; CHILD; CHROMOSOME 22; CHROMOSOME TRANSLOCATION 5; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; AUTISM SPECTRUM DISORDER; CHROMOSOME 5; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; COMPLICATION; GENE TRANSLOCATION; GENETICS; INTELLECTUAL DISABILITY; PATERNAL INHERITANCE;

AUTISM SPECTRUM DISORDER; CHILD; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 5; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; PATERNAL INHERITANCE; TRANSLOCATION, GENETIC;

EID: 84942133878     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.211     Document Type: Article

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