Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2

American Journal of Medical Genetics, Part A

Volumn 164, Issue 10, 2014, Pages 2618-2622

  Piard, Juliette ^a   Mignot, Brigitte ^a   Arbez Gindre, Francine ^a   Aubert, Didier ^a   Morel, Yves ^b   Roze, Virginie ^a   McElreavy, Kenneth ^c   Jonveaux, Philippe ^d   Valduga, Mylène ^d   van Maldergem, Lionel ^a  

^a UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^b UNIVERSITÉ DE LYON   (France)

^c INSTITUT PASTEUR   (France)

^d UNIVERSITÉ DE LORRAINE   (France)

Author keywords

EMX2; EMX2 and DSD; Intellectual disability and EMX2; Microdeletion and DSD; Sex differentiation disorder

Indexed keywords

CHORIONIC GONADOTROPIN; MUELLERIAN INHIBITING FACTOR; TESTOSTERONE; TRANSCRIPTION FACTOR EMX2; EMPTY SPIRACLES HOMEOBOX PROTEINS; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; BIFID SCROTUM; CASE REPORT; CHILD; CHROMOSOME 10Q; CHROMOSOME DELETION; CHROMOSOME MICRODELETION; CYSTOGRAPHY; DEVELOPMENTAL DISORDER; DISORDER OF SEX DEVELOPMENT; ECHOGRAPHY; EMX2 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; GENITOPLASTY; GONADAL DYSGENESIS; HAPLOINSUFFICIENCY; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPOSPADIAS; INFANT; INTRAABDOMINAL TESTIS; KARYOTYPE 46,XY; KIDNEY ULTRASOUND; MALE; MALE GENITAL SYSTEM SURGERY; MICROPENIS; MULLERIAN RECESSUS; ORCHIDOPEXY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCOLIOSIS; SCROTUM DISORDER; SOLITARY KIDNEY; TESTICULAR DYSGENESIS; TESTIS DISEASE; URETER SURGERY; URETROPLASTY; CHROMOSOME 10; GENE DELETION; GENETICS; PHENOTYPE;

46, XY DISORDERS OF SEX DEVELOPMENT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; DISORDERS OF SEX DEVELOPMENT; HOMEODOMAIN PROTEINS; HUMANS; MALE; PHENOTYPE; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84908249404     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36662     Document Type: Article

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