Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)

Wiener Klinische Wochenschrift

Volumn 120, Issue 13-14, 2008, Pages 435-439

  Hofstetter, Gerda ^a   Concin, Nicole ^a   Marth, Christian ^a   Rinne, Tuula ^b   Erdel, Martin ^a   Janecke, Andreas ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

22q11; MURCS; p63; TBX3; TBX5

Indexed keywords

PROTEIN P63; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX3; TRANSCRIPTION FACTOR TBX5; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 12Q24.1; CHROMOSOME 22Q; CHROMOSOME 22Q11.1; CHROMOSOME 3Q; CHROMOSOME 3Q27; CLEFT LIP FACE PALATE; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HAND MALFORMATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; ROKITANSKY SYNDROME; SUPERIOR CAVA VEIN; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CERVICAL VERTEBRAE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 3; DIGEORGE SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; FINGERS; GENETIC HETEROGENEITY; GENETIC VARIATION; GENITALIA, FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KIDNEY; MULLERIAN DUCTS; SYNDROME; THORACIC VERTEBRAE;

EID: 51749091528     PISSN: 00435325     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00508-008-0995-4     Document Type: Article

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