Associated Papers
IGSF1 Does Not Regulate Spermatogenesis or Modify FSH Synthesis in Response to Inhibins or Activins.
Brûlé E et al.
Journal of the Endocrine Society, 2021
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P et al.
Frontiers in Endocrinology, 2021
34566885 (PubMed )
Supplement: Table_1.docx
Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome.
Joustra SD et al.
Neuroendocrinology, 2016
Neonatal screening and a new cause of congenital central hypothyroidism.
Tajima T et al.
Annals of Pediatric Endocrinology & Metabolism, 2014
The IGSF1 deficiency syndrome: characteristics of male and female patients.
Joustra SD et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
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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