Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH

European Journal of Endocrinology

Volumn 168, Issue 3, 2013, Pages

  Petkovic, Vibor ^a   Miletta, Maria Consolata ^a   Boot, Annemieke M ^b   Losekoot, Monique ^c   Flück, Christa E ^a   Pandey, Amit V ^a   Eblé, Andrée ^a   Wit, Jan Maarten ^c   Mullis, Primus E ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; JANUS KINASE 2; PROLINE; SERINE; SOMATOMEDIN C; STAT5 PROTEIN;

ARTICLE; BINDING AFFINITY; BONE AGE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GROWTH HORMONE 1 GENE; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE RELEASE; HETEROZYGOTE; HORMONE DETERMINATION; HORMONE RECEPTOR INTERACTION; HORMONE RESPONSE; HUMAN; IN VITRO STUDY; MALE; MUTAGENESIS; MUTANT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SIBLING; SIGNAL TRANSDUCTION; WILD TYPE;

AMINO ACID SUBSTITUTION; BODY HEIGHT; CHILD; FEMALE; HETEROZYGOTE; HORMONE REPLACEMENT THERAPY; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; RECEPTORS, SOMATOTROPIN; SIBLINGS;

EID: 84874101920     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0847     Document Type: Article

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