Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 3, 2013, Pages

  Flemming, G M C ^a   Klammt, J ^a   Ambler, G ^b   Bao, Y ^c   Blum, W F ^a,d   Cowell, C ^b   Donaghue, K ^b   Howard, N ^b   Kumar, A ^e   Sanchez, J ^c   Stobbe, H ^a   Pfaffle R W ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d LILLY DEUTSCHLAND GMBH   (Germany)

^e VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GONADOTROPIN; THYROTROPIN; TRANSCRIPTION FACTOR GLI2;

ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENETIC VARIABILITY; GROWTH HORMONE DEFICIENCY; HETEROZYGOTE; HUMAN; HYPOPITUITARISM; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLE PITUITARY HORMONE DEFICIENCY; NEUROHYPOPHYSIS; POLYDACTYLY; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; HYPOPITUITARISM; INFANT; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; PITUITARY DISEASES; PITUITARY HORMONES; PREVALENCE; YOUNG ADULT;

EID: 84874833350     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-3224     Document Type: Article

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