Associated Papers
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
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y et al.
Nature Genetics, 2012
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