Earliest ultrasound findings and description of splicing mutations in Meckel–Gruber syndrome

Archives of Gynecology and Obstetrics

Volumn 286, Issue 4, 2012, Pages 917-921

  Eckmann Scholz, Christel ^a   Jonat, Walter ^a   Zerres, Klaus ^b   Ortiz Brüchle, Nadine ^b  

^a UNIVERSITY OF KIEL   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

First trimester screening; Meckel Gruber syndrome; Prenatal malformation; Splicing mutation

Indexed keywords

DNA; CEP290 PROTEIN, HUMAN; TUMOR ANTIGEN; TUMOR PROTEIN;

ADULT; ARTICLE; AUTOPSY; CASE REPORT; DNA DETERMINATION; ECHOGRAPHY; ENCEPHALOCELE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GESTATION PERIOD; HUMAN; KIDNEY POLYCYSTIC DISEASE; MECKEL SYNDROME; MKS4 GENE; RECURRENT DISEASE; SECOND TRIMESTER PREGNANCY; SPLICE SITE MUTATION; ADOLESCENT; CILIARY DYSKINESIA; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GENETICS; MUTATION; PREGNANCY; RNA SPLICING;

ADOLESCENT; ANTIGENS, NEOPLASM; CILIARY MOTILITY DISORDERS; ENCEPHALOCELE; FEMALE; HUMANS; MUTATION; NEOPLASM PROTEINS; POLYCYSTIC KIDNEY DISEASES; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY TRIMESTER, SECOND; RNA SPLICE SITES; ULTRASONOGRAPHY, PRENATAL;

EID: 84873496350     PISSN: 09320067     EISSN: 14320711     Source Type: Journal    
DOI: 10.1007/s00404-012-2411-6     Document Type: Article

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