Primary Growth Hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: Genetic and functional studies of simple and compound heterozygous states

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 6, 2007, Pages 2223-2231

  Fang, Peng ^a   Riedl, Stefan ^b   Amselem, Serge ^c   Pratt, Katherine L ^a   Little, Brian M ^a   Haeusler, Gabriele ^b   Hwa, Vivian ^a,g   Frisch, Herwig ^b,d   Rosenfeld, Ron G ^a,e,f  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF VIENNA   (Austria)

^c HENRI MONDOR HOSPITAL   (France)

^d ST ANNA CHILDREN S HOSPITAL   (Austria)

^e LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^f STANFORD UNIVERSITY   (United States)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; SOMATOMEDIN; STAT1 PROTEIN; STAT5B PROTEIN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE EXPRESSION; GENETIC TRANSCRIPTION; GROWTH HORMONE BLOOD LEVEL; HETEROZYGOTE; HUMAN; INFANT; LARON SYNDROME; MALE; MUTATION; NEWBORN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; STATISTICAL SIGNIFICANCE;

EID: 34347230551     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-2624     Document Type: Article

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