Associated Papers
Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations.
Elizabeth MSM et al.
Genes, 2022
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P et al.
Frontiers in Endocrinology, 2021
34566885 (PubMed )
Supplement: Table_1.docx
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C et al.
European Journal of Endocrinology, 2018
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
From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function.
Bernard DJ et al.
Journal of the Endocrine Society, 2018
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