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
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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