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THYROID HORMONE METABOLISM, ABNORMAL (THMA)

THYROID HORMONE METABOLISM, ABNORMAL (THMA)
609698
OMIM = Online Mendelian Inheritance of Men
171706
Selenocysteine insertion sequence-binding protein 2
E03.1
very rare
autosomal recessive
mutation in the SECISBP2 gene

Laboratory findings    Selenium decreased (serum)
    Thyroxine (T4) inc (serum)
    Triiodothyronine (T3) dec (serum)
Symptoms    bone age, delayed
    developmental delay
    growth retardation, poor growth
    onset, childhood
    short stature