Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature

Hormone Research in Paediatrics

Volumn 78, Issue 1, 2012, Pages 59-66

  Fuqua, John S ^a,c   Derr, Michael ^b   Rosenfeld, Ron G ^b   Hwa, Vivian ^b  

^a INDIANA UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c RILEY HOSPITAL FOR CHILDREN   (United States)

Author keywords

Growth retardation; IGF 1 gene; Mutation analysis; Short stature

Indexed keywords

MESSENGER RNA; METHYLPHENIDATE; RECOMBINANT GROWTH HORMONE; RECOMBINANT SOMATOMEDIN C; RISPERIDONE; SOMATOMEDIN C; TRAZODONE;

ARTICLE; ATTENTION DEFICIT DISORDER; BODY HEIGHT; CASE REPORT; CHILD; EXON; FAMILY; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; MALE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALTERNATIVE SPLICING; BODY HEIGHT; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; DWARFISM; FAMILY; GROWTH CHARTS; HETEROZYGOTE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 84865482309     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000337249     Document Type: Article

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