46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

European Journal of Medical Genetics

Volumn 56, Issue 11, 2013, Pages 619-623

  Brandt, Tracy ^a   Blanchard, Leah ^a   Desai, Khyati ^a   Nimkarn, Saroj ^b   Cohen, Ninette ^a   Edelmann, Lisa ^a   Mehta, Lakshmi ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

46,XY disorder of sex development; 46,XY DSD; 9q33 Microdeletion; NR5A1; SF1

Indexed keywords

FOLLITROPIN; INHIBIN B; LUTEINIZING HORMONE; MUELLERIAN INHIBITING FACTOR; TESTOSTERONE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 9Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMMUNICATION DISORDER; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE REARRANGEMENT; GENE SEQUENCE; HORMONE SYNTHESIS; HUMAN; KARYOTYPE 46,XY; NR5A1 GENE; OCCUPATIONAL THERAPY; PHENOTYPE; PHYSIOTHERAPY; PRESCHOOL CHILD; SEX DIFFERENTIATION DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH THERAPY; TWIN PREGNANCY;

MUS;

46,XY DISORDER OF SEX DEVELOPMENT; 46,XY DSD; 9Q33 MICRODELETION; NR5A1; SF1;

46, XY DISORDERS OF SEX DEVELOPMENT; ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 9; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DELETION; HUMANS; KARYOTYPE; STEROIDOGENIC FACTOR 1; SYNDROME;

EID: 84885948680     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.09.006     Document Type: Article

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