Growth hormone insensitivity and severe short stature in siblings: A novel mutation at the exon 13-intron 13 junction of the STAT5b gene

Hormone Research

Volumn 68, Issue 5, 2007, Pages 218-224

  Hwa, Vivian ^a   Camacho Hübner, Cecilia ^b   Little, Brian M ^a   David, Alessia ^b   Metherell, Lou A ^b   El Khatib, Nesrin ^c   Savage, Martin O ^b   Rosenfeld, Ron G ^a,d,e  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c Ahmadi Hospital   (Kuwait)

^d STANFORD UNIVERSITY   (United States)

^e LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

Author keywords

Growth hormone insensitivity; IGF deficiency; STAT5b mutation

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; STAT5B PROTEIN;

ANIMAL CELL; ARTICLE; BIOCHEMISTRY; BODY HEIGHT; BRONCHIECTASIS; CASE REPORT; CELL CULTURE; CELL STRAIN COS7; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DNA DETERMINATION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; JUVENILE RHEUMATOID ARTHRITIS; KUWAIT; LUNG INFECTION; NONHUMAN; PARENT; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SEROLOGY; SHORT STATURE; SIBLING; WESTERN BLOTTING;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BODY HEIGHT; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; CONSANGUINITY; COS CELLS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INTRONS; LARON SYNDROME; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE HOMOLOGY, AMINO ACID; SIBLINGS; STAT5 TRANSCRIPTION FACTOR; TRANSFECTION;

EID: 34948904345     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000101334     Document Type: Article

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