Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 3, 2010, Pages 1137-1142

  Kruis, Tassilo ^a   Klammt, Jürgen ^a   Galli Tsinopoulou, Assimina ^c   Wallborn, Tillmann ^a   Schlicke, Marina ^a   Müller, Eva ^a   Kratzsch, Jürgen ^b   Körner, Antje ^a   Odeh, Rasha ^a   Kiess, Wieland ^a   Pfäffle, Roland ^a  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^b Institute of Laboratory Medicine   (Germany)

^c ARISTOTLE UNIVERSITY MEDICAL SCHOOL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPONECTIN; COMPLEMENTARY DNA; GENOMIC DNA; LEPTIN; SOMATOMEDIN B; SOMATOMEDIN BINDING PROTEIN 1; SOMATOMEDIN BINDING PROTEIN 2; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; FIBROBLAST; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; MICROCEPHALY; NEWBORN; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; POSTNATAL GROWTH; PRIORITY JOURNAL; PROTEIN MOTIF; SHORT STATURE;

EID: 77749267586     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1433     Document Type: Article

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