Heart defects and other features of the 22q11 distal deletion syndrome

European Journal of Medical Genetics

Volumn 56, Issue 2, 2013, Pages 98-107

  Fagerberg, Christina R ^a   Graakjaer, Jesper ^b   Heinl, Ulrike D ^c   Ousager, Lilian B ^a   Dreyer, Inken ^d   Kirchhoff, Maria ^e   Rasmussen, Anders A ^b   Lautrup, Charlotte K ^f   Birkebaek, Niels ^f   Sorensen, Keld ^f  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b LILLEBAELT HOSPITAL   (Denmark)

^c KOLDING HOSPITAL   (Denmark)

^d Soenderborg Hospital   (Denmark)

^e International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^f AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Chromosome deletion; Chromosomes, Human, Pair 22; Congenital; Heart defects; Premature birth; Rhabdoid tumor; Syndrome

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE 1;

22Q11 DISTAL DELETION SYNDROME; ADOLESCENT; ARTICLE; BEHAVIOR DISORDER; BRAIN ATROPHY; CASE REPORT; CAVOPULMONARY CONNECTION; CHROMOSOME DISORDER; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOOD INTAKE; HAPLOINSUFFICIENCY; HEART RIGHT VENTRICLE DOUBLE OUTLET; HUMAN; INGUINAL HERNIA; LEARNING DISORDER; LOW BIRTH WEIGHT; MALE; MICROCEPHALY; MITRAL VALVE STENOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PREMATURITY; PYLORUS STENOSIS; SHORT STATURE; SOLUTIO PLACENTAE;

22Q11 DELETION SYNDROME; ADOLESCENT; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PHENOTYPE;

EID: 84873188906     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.09.009     Document Type: Article

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