F. Magne

Functional Characterization of a Novel Variant of the Thyroid Hormone Receptor Alpha in a Child with Developmental Delay and Abnormal Thyroid Function.

BACKGROUND Resistance to thyroid hormone α (RTHα) is a rare disorder caused by pathogenic THRA variants. We investigated the molecular basis of RTHα in a child with developmental delay, dysmorphic features, and a suggestive biochemical profile. METHODS Whole-exome sequencing identified a de novo THRA variant. Cell-ba...