Congenital Central Hypothyroidism Caused by Novel Variants in IGSF1 Gene : Case Series of three patients

INTRODUCTIONCongenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Loss of function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene causes X-linked central hypothyroidism and represent the most common genetic cause of...

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Veröffentlicht in:	Hormone research in paediatrics 2024
Hauptverfasser:	MacGloin, Helen, Schoenmakers, Nadia, Moorwood, Catherine, Buchanan, Charles R, Arya, Ved Bhushan
Format:	Report
Sprache:	eng
Online-Zugang:	Volltext
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