A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis

Diagnostic Molecular Pathology

Volumn 14, Issue 3, 2005, Pages 159-163

  Kellermayer, Richard ^a,d   Halvax, László ^a   Czakó, Márta ^a   Shahid, Mohammad ^b   Dhillon, Varinderpal S ^c   Husain, Syed Akhtar ^b   Süle, Norbert ^a   Gömöri, Éva ^a   Mammel, Mariann ^a   Kosztolányi, György ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b JAMIA MILLIA ISLAMIA CENTRAL UNIVERSITY   (India)

^c CSIRO   (Australia)

^d CSIRO Health Sciences and Nutrition ^*  (Hungary)

Author keywords

Pure gonodal dysgenesis; Sex reversal; SRY; Swyer syndrome

Indexed keywords

ADENINE;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME DELETION Y; CLINICAL FEATURE; CODON; DNA BINDING; FEMALE; FRAMESHIFT MUTATION; GONADAL DYSGENESIS; HIGH MOBILITY GROUP BOX DOMAIN; HISTOLOGY; HUMAN; HUMAN TISSUE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX TRANSFORMATION; SRY GENE;

ADOLESCENT; DNA; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, SRY; GONADAL DYSGENESIS, 46,XY; GONADS; HMG-BOX DOMAINS; HUMANS; SEMINAL PLASMA PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 25844497469     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.pas.0000176770.56541.dd     Document Type: Article

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