Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R)

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 2, 2012, Pages

  Fang, Peng ^b   Cho, Yoon Hi ^a   Derr, Michael A ^b   Rosenfeld, Ron G ^b   Hwa, Vivian ^b   Cowell, Christopher T ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; GROWTH HORMONE; INSULIN; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR; STEROID;

ADULT; ARTICLE; BIOPSY TECHNIQUE; BURKITT LYMPHOMA; CASE REPORT; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE SEVERITY; EXON; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE EXPRESSION REGULATION; GENE FUNCTION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN LIKE GROWTH FACTOR 1 RECEPTOR GENE; INTRAUTERINE GROWTH RETARDATION; MALE; MISSENSE MUTATION; MULTIPLE CYCLE TREATMENT; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RECEPTOR GENE; SCORING SYSTEM; SHORT STATURE;

CHILD, PRESCHOOL; DWARFISM; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; RECEPTOR, IGF TYPE 1; SEVERITY OF ILLNESS INDEX; SIBLINGS; YOUNG ADULT;

EID: 84856807814     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2142     Document Type: Article

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