Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

Journal of medical genetics

Volumn 45, Issue 9, 2008, Pages

  Shaikh, M G ^a   Boyes, L ^a   Kingston, H ^a   Collins, R ^a   Besley, G T ^a   Padmakumar, B ^a   Ismayl, O ^a   Hughes, I ^a   Hall, C M ^a   Hellerud, C ^a   Achermann, J C ^a   Clayton, P E ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DAX-1 PROTEIN; DNA BINDING PROTEIN; DYSTROPHIN; GLYCEROL KINASE; NUCLEAR RECEPTOR DAX 1; REPRESSOR PROTEIN; RETINOIC ACID RECEPTOR;

ADRENAL INSUFFICIENCY; ARTICLE; CASE REPORT; FEMALE; GENE DELETION; GENETIC LINKAGE; GENETICS; HUMAN; METABOLISM; NEWBORN; PHENOTYPE; X CHROMOSOME INACTIVATION;

ADRENAL INSUFFICIENCY; DNA-BINDING PROTEINS; DYSTROPHIN; FEMALE; GENE DELETION; GLYCEROL KINASE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); PHENOTYPE; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; X CHROMOSOME INACTIVATION;

EID: 49649085557     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2007.055129     Document Type: Article

References (0)