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| Congenital hypothyroidism v0.0 | TBL1X |
Zornitza Stark gene: TBL1X was added gene: TBL1X was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TBL1X were set to 27603907; 30591955 Phenotypes for gene: TBL1X were set to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033 |
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