Multigeneration inheritance through fertile XX carriers of an NR0B1 (DAX1) locus duplication in a kindred of females with isolated XY gonadal dysgenesis

International Journal of Endocrinology

Volumn 2012, Issue , 2012, Pages

  Barbaro, Michela ^a   Cook, Jackie ^b   Lagerstedt Robinson, Kristina ^a   Wedell, Anna ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CAG REPEAT; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CONTROLLED STUDY; CXORF21 GENE; DNA DETERMINATION; DNA METHYLATION; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE OVEREXPRESSION; GENETIC SCREENING; GK GENE; GONADAL DYSGENESIS; HETEROZYGOTE; HUMAN; KARYOTYPE 46,XY; MAGEB1 GENE; MAP3K7IP3 GENE; METAPHASE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NR0B1 GENE; OVARY FUNCTION; PRIORITY JOURNAL; SCHOOL CHILD; TELOMERE; X CHROMOSOMAL INHERITANCE; X CHROMOSOME INACTIVATION;

EID: 84858300923     PISSN: 16878337     EISSN: 16878345     Source Type: Journal    
DOI: 10.1155/2012/504904     Document Type: Article

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