Associated Papers
Identification of a Novel Nonsense Mutation in the IGSF1 Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family.
Ruta R et al.
Children (basel, Switzerland), 2025
Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.
Sugisawa C et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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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