Heterozygous FGF8 Mutations in Patients Presenting Cryptorchidism and Multiple Vater/Vacterl Features without Limb Anomalies

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 100, Issue 10, 2014, Pages 750-759

  Zeidler, Claudia ^a   Woelfle, Joachim ^a   Draaken, Markus ^a   Mughal, Sadaf S ^a   Große, Greta ^a   Hilger, Alina C ^a   Dworschak, Gabriel C ^a   Boemers, Thomas M ^b   Jenetzky, Ekkehart ^c,d   Zwink, Nadine ^c   Lacher, Martin ^e   Schmidt, Dominik ^a,f   Schmiedeke, Eberhard ^g   Grasshoff Derr, Sabine ^h   Märzheuser, Stefanie ^f   Holland Cunz, Stefan ⁱ   Schäfer, Mattias ^j   Bartels, Enrika ^a   Keppler, Kathleen ^a   Palta, Markus ^k   Leonhardt, Johannes ^l   Kujath, Christina ^m   Rißmann, Anke ⁿ   Nöthen, Markus M ^a   Reutter, Heiko ^a   Ludwig, Michael ^a   more..

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e HANNOVER MEDICAL SCHOOL   (Germany)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g Hospital Bremen Mitte   (Germany)

^h UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

ⁱ UNIVERSITY OF HEIDELBERG   (Germany)

^j Cnopf'sche Kinderklinik ^*  (Germany)

^k Evangelisches Krankenhaus Hamm   (Germany)

^l ST BERNWARD KRANKENHAUS   (Germany)

^m UNIVERSITY MEDICINE GREIFSWALD   (Germany)

ⁿ OTTO VON GUERICKE UNIVERSITY   (Germany)

more..

Author keywords

Anorectal malformation; Cryptorchidism; FGF8; Fibroblast growth factor; Hypergonadotropic hypogonadism; Kallmann syndrome; VACTERL VATER association

Indexed keywords

FGF8 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR 8; FOLLITROPIN; INHIBIN; INHIBIN B; LUTEINIZING HORMONE; MUELLERIAN INHIBITING FACTOR; PRIMER DNA; TESTOSTERONE;

ANAL CANAL; BLOOD; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CRYPTORCHISM; DNA SEQUENCE; ENZYME LINKED IMMUNOSORBENT ASSAY; ESOPHAGUS; GENE STRUCTURE; GENETICS; GERMANY; HETEROZYGOTE; HUMAN; KIDNEY; LIMB MALFORMATION; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SPINE; TRACHEA;

ANAL CANAL; ANTI-MULLERIAN HORMONE; BASE SEQUENCE; CRYPTORCHIDISM; DNA PRIMERS; ENZYME-LINKED IMMUNOSORBENT ASSAY; ESOPHAGUS; FIBROBLAST GROWTH FACTOR 8; FOLLICLE STIMULATING HORMONE; GENE COMPONENTS; GERMANY; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HUMANS; INHIBINS; KIDNEY; LIMB DEFORMITIES, CONGENITAL; LUTEINIZING HORMONE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SPINE; TESTOSTERONE; TRACHEA;

EID: 84916228979     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23278     Document Type: Article

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