De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3035-3041

  Dworschak, Gabriel C ^a   Draaken, Markus ^a   Marcelis, Carlo ^b   de Blaauw, Ivo ^b   Pfundt, Rolph ^b   van Rooij, Iris A L M ^b   Bartels, Enrika ^a   Hilger, Alina ^a   Jenetzky, Ekkehart ^c,d   Schmiedeke, Eberhard ^a,e   Grasshoff Derr, Sabine ^f   Schmidt, Dominik ^a,g   Märzheuser, Stefanie ^g   Hosie, Stuart ^h   Weih, Sandra ⁱ   Holland Cunz, Stefan ⁱ   Palta, Markus ^j   Leonhardt, Johannes ^k   Schäfer, Mattias ^l   Kujath, Christina ^m   Rißmann, Anke ⁿ   Nöthen, Markus M ^a   Zwink, Nadine ^c   Ludwig, Michael ^a   Reutter, Heiko ^a   more..

^a UNIVERSITY OF BONN   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e Hospital Bremen Mitte   (Germany)

^f UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁱ UNIVERSITY OF HEIDELBERG   (Germany)

^j Evangelisches Krankenhaus Hamm   (Germany)

^k St Bernward Hospital   (Germany)

^l Cnopf'sche Kinderklinik ^*  (Germany)

^m UNIVERSITY OF GREIFSWALD   (Germany)

ⁿ OTTO VON GUERICKE UNIVERSITY   (Germany)

more..

Author keywords

Anorectal malformations; Chromosome 13q deletion; Ephrin B2; VATER VACTERL

Indexed keywords

DNA;

13Q DELETION; ANORECTAL MALFORMATION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CONGENITAL MALFORMATION; DISEASE SEVERITY; DNA ISOLATION; EFNB2 GENE; FEMALE; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INFANT; KARYOTYPING; MALE; PATERNITY TEST; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VATER VACTERL ASSOCIATION;

FISTULA; MURINAE;

ANORECTAL MALFORMATIONS; CHROMOSOME 13Q DELETION; EPHRIN-B2; VATER/VACTERL;

ANIMALS; ANUS, IMPERFORATE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; DISEASE MODELS, ANIMAL; EPHRIN-B2; ESOPHAGUS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; MICE, KNOCKOUT; MUTATION; RADIUS; SPINE; TRACHEA;

EID: 84888034623     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36153     Document Type: Article

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