Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development

Sexual Development

Volumn 5, Issue 4, 2011, Pages 181-187

  Barbaro, M ^a   Cools, M ^b   Looijenga, L H J ^c   Drop, S L S ^d   Wedell, A ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Disorders of sex development; MLPA; NR5A1; Steroidogenic factor 1

Indexed keywords

NR5A1 PROTEIN, HUMAN; STEROIDOGENIC FACTOR 1;

ARTICLE; CASE REPORT; GENE DELETION; GENETIC PROCEDURES; GENETICS; HUMAN; MALE; MOLECULAR PROBE; POLYMERASE CHAIN REACTION; SEX DIFFERENTIATION DISORDER;

46, XY DISORDERS OF SEX DEVELOPMENT; GENE DELETION; HUMANS; MALE; MOLECULAR PROBE TECHNIQUES; MOLECULAR PROBES; POLYMERASE CHAIN REACTION; STEROIDOGENIC FACTOR 1;

EID: 79960965496     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000328821     Document Type: Article

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