The 2q37-deletion syndrome: An update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

European Journal of Human Genetics

Volumn 21, Issue 6, 2013, Pages 602-612

  Leroy, Camille ^a,b,c   Landais, Emilie ^a,b   Briault, Sylvain ^d   David, Albert ^e   Tassy, Olivier ^f   Gruchy, Nicolas ^g   Delobel, Bruno ^h   Grégoire, Marie Jose ⁱ   Leheup, Bruno ^c,i   Taine, Laurence ^j   Lacombe, Didier ^j   Delrue, Marie Ange ^j   Toutain, Annick ^k   Paubel, Agathe ^k   Mugneret, Francine ^l   Thauvin Robinet, Christel ^c,m   Arpin, Stephanie ^k   Le Caignec, Cedric ^e   Jonveaux, Philippe ^c,i   Beri, Mylene ⁱ   Leporrier, Nathalie ^g   Motte, Jacques ⁿ   Fiquet, Caroline ^b,n   Brichet, Olivier ⁿ   Mozelle Nivoix, Monique ^a,c   Sabouraud, Pascal ⁿ   Golovkine, Nathalie ^o   Bednarek, Nathalie ⁿ   Gaillard, Dominique ^a,b,c   Doco Fenzy, Martine ^a,b,c   more..

^a REIMS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE REIMS CHAMPAGNE ARDENNE   (France)

^c Centre Ref Maladies Rares Anomalies du Devel et Syndromes Malformatifs de la Reg Est   (France)

^d UNIVERSITÉ D'ORLÉANS   (France)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ DE STRASBOURG   (France)

^g CHU CÔTE DE NACRE   (France)

^h HÔPITAL SAINT VINCENT DE PAUL   (France)

ⁱ UNIVERSITÉ DE LORRAINE   (France)

^j UNIVERSITÉ DE BORDEAUX   (France)

^k CHU BRETONNEAU   (France)

^l DIJON UNIVERSITY HOSPITAL   (France)

^m UNIVERSITÉ DE BOURGOGNE   (France)

ⁿ AMERICAN MEMORIAL HOSPITAL   (France)

^o SERVICE DE DERMATOLOGIE   (France)

more..

Author keywords

2q37 deletion syndrome; AHO like syndrome; brachydactyly; genotype phenotype correlation; intellectual disability; overweight

Indexed keywords

HISTONE DEACETYLASE 4;

2Q37 DELETION SYNDROME; ADOLESCENT; ADULT; ARTICLE; AUTISM; BRACHYDACTYLY; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; GENOTYPING TECHNIQUE; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MALE; OBESITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROBLEM BEHAVIOR; SEGREGATION ANALYSIS; SEIZURE; ALBRIGHT SYNDROME; BEHAVIOR; CHROMOSOME 2; CHROMOSOME DISORDER; CHROMOSOME MAP; COPY NUMBER VARIATION; GENETIC ASSOCIATION; GENETICS; PRESCHOOL CHILD;

ADOLESCENT; ADULT; BEHAVIOR; BRACHYDACTYLY; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MALE; OVERWEIGHT; YOUNG ADULT;

EID: 84886900988     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.230     Document Type: Article

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