Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2487-2494

  Harrison, Steven M ^a   Campbell, Ian M ^b   Keays, Melise ^a   Granberg, Candace F ^a   Villanueva, Carlos ^a   Tannin, Grace ^a,c   Zinn, Andrew R ^a,d   Castrillon, Diego H ^a   Shaw, Chad A ^b   Stankiewicz, Pawel ^b   Baker, Linda A ^a,c,d  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c CHILDREN S MEDICAL CENTER   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

46,XY disorders of sex development; 46,XY gonadal dysgenesis; Hypospadias; NR5A1; Premature ovarian failure; SF 1 transcription factor

Indexed keywords

ARTICLE; CHROMOSOME 9Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; HYPOSPADIAS; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NR5A1 GENE; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SEX DIFFERENTIATION DISORDER;

46,XY DISORDERS OF SEX DEVELOPMENT; 46,XY GONADAL DYSGENESIS; HYPOSPADIAS; NR5A1; PREMATURE OVARIAN FAILURE; SF-1 TRANSCRIPTION FACTOR;

46, XY DISORDERS OF SEX DEVELOPMENT; ADULT; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PRIMARY OVARIAN INSUFFICIENCY; STEROIDOGENIC FACTOR 1;

EID: 84884986158     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36084     Document Type: Article

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