A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis

Molecular Human Reproduction

Volumn 11, Issue 11, 2005, Pages 833-836

  Canto, P ^a   Vilchis, F ^b   Soderlund D ^a   Reyes, E ^b   Mendez J P ^a,c  

^a HOSPITAL DE PEDIATRÍA   (Mexico)

^b INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^c INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

Author keywords

DHH gene; Founder gene; Male gonadal differentiation; MGD; Mutation

Indexed keywords

GENOMIC DNA; PARAFFIN; SONIC HEDGEHOG PROTEIN; TESTIS DETERMINING FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; CYTOGENETICS; DISEASE ASSOCIATION; DNA ISOLATION; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INFANT; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEX DIFFERENTIATION; SINGLE STRAND CONFORMATION POLYMORPHISM; Y CHROMOSOME; ALLELE; CLINICAL ARTICLE; GENE IDENTIFICATION; GENETIC CODE; HETEROZYGOSITY; HISTOPATHOLOGY; MOLECULAR GENETICS; SEX DETERMINATION; SRY GENE; STOP CODON;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; EXONS; GONADAL DYSGENESIS; HEDGEHOG PROTEINS; HETEROZYGOTE DETECTION; HUMANS; INFANT; KARYOTYPING; MALE; MUTATION; REFERENCE VALUES; TRANS-ACTIVATORS;

ERINACEIDAE; MAMMALIA;

EID: 32144444310     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/gah216     Document Type: Article

References (21)

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