Functional Characterization of a Novel Variant of the Thyroid Hormone Receptor Alpha in a Child with Developmental Delay and Abnormal Thyroid Function.
Thyroid : official journal of the American Thyroid Association · 2026
Abstract e pubblicazione originale
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Leggi nella fonte originale ↗Parole chiave
HumansDevelopmental DisabilitiesExome SequencingFrameshift MutationThyroid GlandThyroid Hormone Receptors alphaThyroid Hormone Resistance SyndromeTriiodothyronineChildTHRAglobal developmental delayresistance to thyroid hormonethyroid hormone receptorthyroid hormone receptor alpha 1
Come citare questo studio
Véronique Caron, Katherine Bonnycastle, Agathe Rio, Lyne Chiniara, Mélanie Henderson, Guy Van Vliet, André Tremblay, Fabien Magne. (2026). Functional Characterization of a Novel Variant of the Thyroid Hormone Receptor Alpha in a Child with Developmental Delay and Abnormal Thyroid Function.. Thyroid : official journal of the American Thyroid Association. DOI: 10.1177/10507256261490862
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