Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

Hormone Research in Paediatrics

Volumn 77, Issue 2, 2012, Pages 100-107

  Barbaro, Michela ^a,b   Bens, Susanne ^c   Haake, Andrea ^c   Peter, Michael ^d   Brämswig, Jürgen ^e   Holterhus, Paul Martin ^c   Lopez Siguero, Juan Pedro ^h   Menken, Udo ^f   Mix, Monika ^g   Sippell, Wolfgang G ^c   Wedell, Anna ^a,b   Riepe, Felix G ^c  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d Screening Laboratory   (Germany)

^e UNIVERSITY OF MÜNSTER   (Germany)

^f RUHR UNIVERSITY BOCHUM   (Germany)

^g UNIVERSITY OF ROSTOCK   (Germany)

^h HOSPITAL MATERNO INFANTIL   (Spain)

Author keywords

Adrenal hypoplasia congenita; Contiguous gene deletion; Multiplex ligation dependent probe amplification; NR0B1

Indexed keywords

NUCLEAR RECEPTOR DAX 1;

ADOLESCENT; ADRENAL DISEASE; ADRENAL HYPOPLASIA CONGENITA; ADULT; ARTICLE; CHILD; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENETIC DIFFERENCE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOPLASIA; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; CHILD; DAX-1 ORPHAN NUCLEAR RECEPTOR; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENETIC LOCI; HETEROZYGOTE DETECTION; HUMANS; INFANT; INTERLEUKIN-1 RECEPTOR ACCESSORY PROTEIN; MALE; MENTAL RETARDATION, X-LINKED; MOTHERS; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SWEDEN;

EID: 84858988433     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000336344     Document Type: Article

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