Novel compound heterozygous mutations in the SBP2 gene: Characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation

European Journal of Endocrinology

Volumn 166, Issue 4, 2012, Pages 757-764

  Hamajima, Takashi ^a   Mushimoto, Yuichi ^b   Kobayashi, Hironori ^b   Saito, Yoshiro ^c   Onigata, Kazumichi ^b  

^a AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^b SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^c DOSHISHA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; LIOTHYRONINE; THYROXINE;

ARTICLE; BODY HEIGHT; BONE AGE; BONE GROWTH; BONE MATURATION; CASE REPORT; COMBINATION CHEMOTHERAPY; DEVELOPMENTAL GENE; GENE MUTATION; GENETIC IDENTIFICATION; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HETEROZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HYPOTHYROIDISM; INFANT; JAPANESE; MALE; MONOTHERAPY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROMOTER REGION; SHORT STATURE; SPB2 GENE; SYMPTOMATOLOGY; THYROID FUNCTION TEST; TREATMENT DURATION;

AGE DETERMINATION BY SKELETON; BONE DEVELOPMENT; CALCIFICATION, PHYSIOLOGIC; CHILD, PRESCHOOL; GROWTH DISORDERS; HETEROZYGOTE; HUMAN GROWTH HORMONE; HUMANS; MALE; MUTATION; PEDIGREE; RNA-BINDING PROTEINS; THYROID FUNCTION TESTS; TRIIODOTHYRONINE;

EID: 84859398165     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0812     Document Type: Article

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