TY - JOUR
T1 - Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ)
AU - Concolino, Paola
AU - Costella, Alessandra
AU - Paragliola, Rosa Maria
PY - 2019/6
Y1 - 2019/6
N2 - Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). In most cases, the disorder is associated with germline pathogenic variants in the thyroid hormone receptor beta (THRB) gene. This paper summarizes the clinical and biochemical presentation of the disease, providing a comprehensive overview on molecular genetic features. Particular care is given in reporting all identified THRB variants with an assessed or unknown clinical significance. Our aim is to offer a useful tool for clinical and genetic specialists in order to ease clinical diagnosis and genetic counseling.
AB - Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). In most cases, the disorder is associated with germline pathogenic variants in the thyroid hormone receptor beta (THRB) gene. This paper summarizes the clinical and biochemical presentation of the disease, providing a comprehensive overview on molecular genetic features. Particular care is given in reporting all identified THRB variants with an assessed or unknown clinical significance. Our aim is to offer a useful tool for clinical and genetic specialists in order to ease clinical diagnosis and genetic counseling.
U2 - 10.1007/s40291-019-00399-w
DO - 10.1007/s40291-019-00399-w
M3 - Review article
C2 - 30976996
VL - 23
SP - 353
EP - 368
JO - Molecular Diagnosis and Therapy
JF - Molecular Diagnosis and Therapy
SN - 1177-1062
IS - 3
ER -