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GENATLAS PHENOTYPE

last update : 24-06-2020

Symbol	GHTR
Location	3p24
Name	goiter with thyroid hormone resistance, generalized
Other name(s)	Refetoff syndrome
Corresponding gene	THRB
Main clinical features	with deafness and stippled epiphyses and severe hyposensitivity to thyroid hormone mutations in THRB present with resistance to thyroid hormone beta (THRB), which is a disorder characterized by elevated levels of thyroid hormone, normal or elevated levels of TSH and goitre
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Gene product

Name	thyroid hormone receptor, beta (THRB)

Remark(s)

. novel therapeutic strategies that target the THRB–NCOR1 interaction may benefit patients with GHTR (PMID: 21987803))