Central 22q11.2 deletions

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2707-2723

  Rump, Patrick ^a   de Leeuw, Nicole ^b   van Essen, Anthonie J ^a   Verschuuren Bemelmans, Corien C ^a   Veenstra Knol, Hermine E ^a   Swinkels, Mariëlle E M ^c   Oostdijk, Wilma ^d   Ruivenkamp, Claudia ^d   Reardon, Willie ^e   de Munnik, Sonja ^b   Ruiter, Mariken ^b   Frumkin, Ayala ^f   Lev, Dorit ^g   Evers, Christina ^h   Sikkema Raddatz, Birgit ^a   Dijkhuizen, Trijnie ^a   van Ravenswaaij Arts, Conny M ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^g GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^h UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

22q11.2; Atypical; CRKL; Deletion; Distal; MAPK1; TBX1

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME DELETION 22Q11; CLEFT PALATE; CLINICAL ARTICLE; COGNITIVE DEFECT; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; GENE; GENE FREQUENCY; GROWTH RETARDATION; HUMAN; INFANT; KIDNEY MALFORMATION; MALE; MAPK1 GENE; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; URINARY TRACT MALFORMATION; DIGEORGE SYNDROME; FACIES; FAMILY; GENE LOCUS; GENE ORDER; GENETICS; PRENATAL DIAGNOSIS; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIGEORGE SYNDROME; FACIES; FAMILY; FEMALE; GENE ORDER; GENETIC LOCI; HUMANS; MALE; PHENOTYPE; PRENATAL DIAGNOSIS; YOUNG ADULT;

EID: 84911446780     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36711     Document Type: Article

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