The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein

Growth Hormone and IGF Research

Volumn 21, Issue 1, 2011, Pages 44-50

  Van Duyvenvoorde, H A ^a   van Doorn, J ^b   Koenig, J ^c   Gauguin, L ^c   Oostdijk, W ^a   Wade, J D ^d   Karperien, M ^e   Ruivenkamp, C A L ^a   Losekoot, M ^a   van Setten, P A ^f   Walenkamp, M J E ^a,g   Noordam, C ^h   De Meyts, P ^c   Wit, J M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c HAGEDORN RESEARCH INSTITUTE   (Denmark)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e UNIVERSITY OF TWENTE   (Netherlands)

^f RIJNSTATE HOSPITAL   (Netherlands)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

GH treatment; Growth; Heterozygote; Human growth hormone; Humans; IGF1; Insulin like growth factor I; Microcephaly; Mutation; Pedigree; Short stature

Indexed keywords

INSULIN RECEPTOR; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR;

ANIMAL CELL; ARTICLE; CASE REPORT; CHILD; COMPLEX FORMATION; CONTROLLED STUDY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MUTANT; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; RAT; SCHOOL CHILD; SHORT STATURE; SIBLING; WILD TYPE;

AMINO ACID SEQUENCE; BASE SEQUENCE; BODY HEIGHT; CHILD; DWARFISM; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN ISOFORMS; SIBLINGS;

EID: 79951721305     PISSN: 10966374     EISSN: 15322238     Source Type: Journal    
DOI: 10.1016/j.ghir.2010.12.004     Document Type: Article

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