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A Novel De Novo Nonsense Pathogenic Variant in IGSF1 Resulting in Central Hypothyroidism and Transient GH Deficiency.

James Blackburn, Banupriya Sivasanker,Shahida Ahmed, Birgit van Meijgaarden,Marta Korbonits,Evelien Gevers

JCEM case reports(2025)

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