Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system

European Journal of Endocrinology

Volumn 151, Issue 3, 2004, Pages 333-341

  de Boer, L ^a   van Duyvenvoorde, H A ^a   Willemstein van Hove, E C ^a   Hoogerbrugge, C M ^b   Van Doorn, J ^b   Maassen, J A ^a   Karperien, M ^a   Wit, J M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SOMATOMEDIN; SOMATOMEDIN B; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN BINDING PROTEIN 2; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN BINDING PROTEIN 4; SOMATOMEDIN BINDING PROTEIN 6; SOMATOMEDIN C; THYMIDINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NSD1; TRITIUM; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLOOD LEVEL; BLOOD SAMPLING; CELL PROLIFERATION; CELL STIMULATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; CULTURE MEDIUM; DISEASE ASSOCIATION; ENDOCRINE DISEASE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GROWTH DISORDER; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MITOGENESIS; PARACRINE SIGNALING; PRIORITY JOURNAL; PROTEIN SECRETION; RADIOIMMUNOASSAY; REFERENCE VALUE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; SOTOS SYNDROME; STATISTICAL SIGNIFICANCE; TISSUE LEVEL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CARRIER PROTEINS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; ENDOCRINE SYSTEM DISEASES; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 2; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 4; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 6; INSULIN-LIKE GROWTH FACTOR I; INSULIN-LIKE GROWTH FACTOR II; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PARACRINE COMMUNICATION; RNA, MESSENGER; SKIN;

EID: 4744346561     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1510333     Document Type: Article

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