9q33.3q34.11 microdeletion: New contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

European Journal of Human Genetics

Volumn 24, Issue 6, 2016, Pages 830-837

  Nambot, Sophie ^a,b   Masurel, Alice ^a   El Chehadeh, Salima ^a   Mosca Boidron, Anne Laure ^b   Thauvin Robinet, Christel ^a,c   Lefebvre, Mathilde ^a   Marle, Nathalie ^b   Thevenon, Julien ^a,b   Perez Martin, Stéphanie ^a   Dulieu, Véronique ^b   Huet, Frédéric ^a   Plessis, Ghislaine ^d   Andrieux, Joris ^e   Jouk, Pierre Simon ^f   Billy Lopez, Gipsy ^f   Coutton, Charles ^g   Morice Picard, Fanny ^h   Delrue, Marie Ange ^h   Heron, Delphine ⁱ   Rooryck, Caroline ^h   Goldenberg, Alice ^j   Saugier Veber, Pascale ^j   Joly Hélas, Géraldine ^j   Calenda, Patricia ^k   Kuentz, Paul ^c   Manouvrier Hanu, Sylvie ^l,m   Dupuis Girod, Sophie ⁿ   Callier, Patrick ^b,c   Faivre, Laurence ^a,c   more..

^a Medical University of Dijon   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ BOURGOGNE FRANCHE COMTÉ   (France)

^d CAEN UNIVERSITY HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f GRENOBLE UNIVERSITY HOSPITAL   (France)

^g UNIV GRENOBLE ALPES   (France)

^h BORDEAUX UNIVERSITY HOSPITAL   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j ROUEN UNIVERSITY HOSPITAL   (France)

^k EEAP Tony Larue   (France)

^l Clinique de Genetique Medicale   (France)

^m UNIV LILLE   (France)

ⁿ Hopital Femme Mre Enfant   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

9Q33.3Q34.11 MICRODELETION; ADOLESCENT; ADULT; ARTICLE; BONE MALFORMATION; CASE REPORT; CHILD; CHROMOSOME DELETION; CLINICAL FEATURE; ENG GENE; EPILEPSY; EPISTAXIS; FACE DYSMORPHIA; FEMALE; GENE; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; LMX1B GENE; MALE; NAIL DYSPLASIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; STXBP1 GENE; TELANGIECTASIA; YOUNG ADULT; CHROMOSOME 9; CRANIOFACIAL ABNORMALITIES; GENETICS; INTELLECTUAL DISABILITY; SYNDROME;

ENDOGLIN; ENG PROTEIN, HUMAN; LIM HOMEOBOX TRANSCRIPTION FACTOR 1 BETA; LIM HOMEODOMAIN PROTEIN; MUNC18 PROTEIN; STXBP1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; CRANIOFACIAL ABNORMALITIES; ENDOGLIN; EPILEPSY; FEMALE; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; LIM-HOMEODOMAIN PROTEINS; MALE; MUNC18 PROTEINS; PHENOTYPE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84942133291     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.202     Document Type: Article

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