Microtriplication of 11q24.1: A highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability

Journal of Medical Genetics

Volumn 48, Issue 9, 2011, Pages 635-639

  Beneteau, Claire ^a,b,c   Landais, Emilie ^d   Doco Fenzy, Martine ^d   Gavazzi, Cyrille ^a   Philippe, Christophe ^a   Béri Dexheimer, Mylène ^a   Bonnet, Céline ^a   Vigneron, Jacqueline ^c   Walrafen, Pierre ^e   Motte, Jacques ^f   Leheup, Bruno ^b   Jonveaux, Philippe ^a  

^a UNIVERSITÉ DE LORRAINE   (France)

^b UNIVERSITY HOSPITAL OF NANCY   (France)

^c Maternite Regionale Universitaire   (France)

^d UNIVERSITÉ DE REIMS CHAMPAGNE ARDENNE   (France)

^e Institut Cochin   (France)

^f AMERICAN MEMORIAL HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPOCYTE SPECIFIC ADHESION MOLECULE; CASPASE; GENOMIC DNA; MICRORNA; PLASMA PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; APOPTOSIS; ARTICLE; BODY MASS; CASE REPORT; CHROMOSOMAL MICROTRIPLICATION; CHROMOSOME 11; CHROMOSOME 11Q; CHROMOSOME 15Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLEFT PALATE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; HYPERCHOLESTEROLEMIA; INTELLECTUAL IMPAIRMENT; KERATOCONUS; MALE; MICROSATELLITE MARKER; MUSCLE HYPOTONIA; OBESITY; PES EQUINOVARUS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE ANALYSIS; SHORT STATURE; UPREGULATION;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 11; DWARFISM; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; KERATOCONUS; MALE; MICRORNAS; OVERWEIGHT; PHENOTYPE;

EID: 80052558208     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100008     Document Type: Article

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