An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: Predominantly male ambiguous genitalia and absence of gonadal dysgenesis

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 6, 2002, Pages 2500-2505

  Melo, Karla F S ^a   Martin, Regina M ^b   Costa, Elaine M F ^b   Carvalho, Filomena M ^a   Jorge, Alexander A ^a   Arnhold, Ivo J P ^a   Mendonca, Berenice B ^a,b  

^a Unidade de Endocrinologia do Desenvolvimento   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GONADOTROPIN; LYSINE; SERINE; THREONINE;

ADRENARCHE; ADULT; ANIRIDIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DENYS DRASH SYNDROME; FRASER SYNDROME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GERM CELL TUMOR; GONADAL DYSGENESIS; GONADOBLASTOMA; HETEROZYGOSITY; HUMAN; HYPOSPADIAS; INTRON; KIDNEY FAILURE; LEIOMYOMA; MALE; MALE GENITAL SYSTEM; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SYMPTOM; UROGENITAL TRACT MALFORMATION; WILMS TUMOR GENE; ZINC FINGER MOTIF;

EID: 0036086228     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.6.8521     Document Type: Article

References (31)

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