Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis

European Journal of Medical Genetics

Volumn 55, Issue 12, 2012, Pages 690-694

  Machado, Aline Zamboni ^a   da Silva, Thatiana Evilen ^a   Frade Costa, Elaine Maria ^a   dos Santos, Mariza Gerdulo ^a   Nishi, Mirian Yumie ^a   Brito, Vinicius Nahime ^a   Mendonca, Berenice Bilharinho ^a   Domenice, Sorahia ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

3' UTR microsatellite; 46,XY gonadal dysgenesis; DMRT1; FGF9; Testicular development

Indexed keywords

FIBROBLAST GROWTH FACTOR 9;

ALLELE; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; COMPUTER MODEL; DOUBLESEX AND MAB 3 RELATED TRANSCRIPTION FACTOR 1 GENE; FIBROBLAST GROWTH FACTOR 9 GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 46,XY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION;

3' UNTRANSLATED REGIONS; ALLELES; BASE SEQUENCE; FIBROBLAST GROWTH FACTOR 9; GENE DOSAGE; GONADAL DYSGENESIS, 46,XY; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS;

MUS;

EID: 84869879869     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.07.012     Document Type: Article

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