STAT5B mutations in heterozygous state have negative impact on height: Another clue in human stature heritability

European Journal of Endocrinology

Volumn 173, Issue 3, 2015, Pages 291-296

  Scalco, Renata C ^a   Hwa, Vivian ^b   Domené, Horacio M ^c   Jasper, Héctor G ^c   Belgorosky, Alicia ^d   Marino, Roxana ^d   Pereira, Alberto M ^e   Tonelli, Carlos A ^f   Wit, Jan M ^e   Rosenfeld, Ron G ^g   Jorge, Alexander A L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^d HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSIDADE DO EXTREMO SUL CATARINENSE   (Brazil)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; STAT5B PROTEIN; STAT5 PROTEIN; STAT5B PROTEIN, HUMAN;

ADULT; ARTICLE; BODY BUILD; BRAZILIAN; CONSANGUINITY; CONTROLLED STUDY; EXOME; FEMALE; FIRST DEGREE RELATIVE; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; GROWTH REGULATION; HERITABILITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SEQUENCE ANALYSIS; SHORT STATURE; STAT5B GENE; ADOLESCENT; BODY HEIGHT; CHILD; COMPLICATION; ECZEMA; GENETICS; LARON SYNDROME; LUNG DISEASES, INTERSTITIAL; MIDDLE AGED; MUTATION; PEDIGREE; YOUNG ADULT;

ADOLESCENT; ADULT; BODY HEIGHT; CHILD; ECZEMA; FEMALE; HETEROZYGOTE; HUMANS; LARON SYNDROME; LUNG DISEASES, INTERSTITIAL; MALE; MIDDLE AGED; MUTATION; PEDIGREE; STAT5 TRANSCRIPTION FACTOR; YOUNG ADULT;

EID: 84940662190     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-15-0398     Document Type: Article

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