Associated Papers
Congenital Central Hypothyroidism Caused by Novel Variants in IGSF1 Gene: Case Series of 3 Patients.
MacGloin H et al.
Hormone Research in Paediatrics, 2025
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.
Roche EF et al.
Clinical Endocrinology, 2018
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