Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 5, 2006, Pages 1826-1831

  Hwa, Vivian ^a,e   Haeusler, Gabriele ^b   Pratt, Katherine L ^a   Little, Brian M ^a   Frisch, Herwig ^b   Koller, Dieter ^b   Rosenfeld, Ron G ^c,d  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^d STANFORD UNIVERSITY   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GROWTH HORMONE; SOMATOMEDIN; SOMATOMEDIN BINDING PROTEIN 1; SOMATOMEDIN BINDING PROTEIN 3;

ARTICLE; CASE REPORT; CELL CULTURE; DNA SEQUENCE; GENE MUTATION; GROWTH DISORDER; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL; SKIN BIOPSY; WESTERN BLOTTING;

BLOTTING, WESTERN; CARRIER PROTEINS; CELLS, CULTURED; CHILD; DNA, COMPLEMENTARY; FIBROBLASTS; GLYCOPROTEINS; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; INSULIN-LIKE GROWTH FACTOR I; LIGANDS; MALE; MUTATION, MISSENSE; PUBERTY; SKIN; SOMATOMEDINS;

EID: 33646424087     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2842     Document Type: Article

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