Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation

Clinical Endocrinology

Volumn 77, Issue 2, 2012, Pages 246-254

  Kawashima, Yuki ^a   Higaki, Katsumi ^b   Fukushima, Toshiaki ^c,d   Hakuno, Fumihiko ^c   Nagaishi, Jun Ichi ^a   Hanaki, Keiichi ^a   Nanba, Eiji ^b   Takahashi, Shin Ichiro ^c   Kanzaki, Susumu ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d HIROSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; INSULIN RECEPTOR SUBSTRATE 1; INSULIN RECEPTOR SUBSTRATE 2; SOMATOMEDIN C RECEPTOR;

ARTICLE; BODY HEIGHT; BONE AGE; CASE REPORT; CELL PROLIFERATION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DNA SYNTHESIS; FEMALE; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFORMED CONSENT; INSULIN SENSITIVITY; INTERNALIZATION; INTRAUTERINE GROWTH RETARDATION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORAL GLUCOSE TOLERANCE TEST; POSTNATAL GROWTH; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RECEPTOR BINDING; SIGNAL TRANSDUCTION;

ANIMALS; CELL LINE; CELL PROLIFERATION; CHILD; FEMALE; FETAL GROWTH RETARDATION; GENETIC PREDISPOSITION TO DISEASE; GROWTH DISORDERS; HUMANS; IMMUNOBLOTTING; INSULIN-LIKE GROWTH FACTOR I; MICE; MICROSCOPY, CONFOCAL; MUTATION, MISSENSE; PHOSPHORYLATION; RECEPTOR, IGF TYPE 1;

EID: 84863676323     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2012.04357.x     Document Type: Article

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