Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development

European Journal of Endocrinology

Volumn 170, Issue 5, 2014, Pages 759-767

  Tantawy, Sally ^a,b   Mazen, Inas ^b   Soliman, Hala ^b   Anwar, Ghada ^c   Atef, Abeer ^c   El Gamma, Mona ^b   El Kotoury, Ahmed ^b   Mekkawy, Mona ^b   Torky, Ahmad ^b   Rudolf, Agnes ^a   Schrumpf, Pamela ^a   Gruters, Annette ^a   Krude, Heiko ^a   Dumargne, Marie Charlotte ^d   Astudillo, Rebekka ^a   Bashamboo, Anu ^d   Biebermann, Heike ^a   Kohler, Birgit ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b NATIONAL RESEARCH CENTRE   (Egypt)

^c CAIRO UNIVERSITY   (Egypt)

^d INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CYSTEINE; GLUTAMIC ACID; GLYCINE; MUELLERIAN INHIBITING FACTOR; PEPTIDES AND PROTEINS; PROTEIN TESCO; STEROIDOGENIC FACTOR 1; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISORDER OF SEX DEVELOPMENT; EGYPTIAN; ETHNIC GROUP; FEMALE; GONADAL DYSGENESIS; HETEROZYGOSITY; HINGE REGION; HUMAN; HYPOSPADIAS; MALE; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; NR5A1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA BINDING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ZINC FINGER MOTIF;

46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EGYPT; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; HYPOSPADIAS; INFANT; MALE; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECOMBINANT PROTEINS; STEROIDOGENIC FACTOR 1; YOUNG ADULT;

EID: 84899732153     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-13-0965     Document Type: Article

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