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Author

M. Carter

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Case report Aug 2026

Adult-Onset CTC1-Related Disorder With Kidney Disease, Subcutaneous Dystrophic Calcifications and Telomere Length Conservation.

This case represents the second confirmed adult-onset CTC1-related disorder and the longest survival to date and suggests that subcutaneous calcifications and progressive renal and multi-organ disease may represent later-onset manifestations of the condition.

Élisabeth C Soubry, J. K. Postma, Meredith K. Gillespie et al. · 0 citations
Open access Jun 2026

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

Overall, EIF1AX is a novel gene for which loss-of-function variants appear to produce syndromic neurodevelopmental disorders in males, and its pathogenicity was evaluated using a molecular dynamic simulation and transgenic Drosophila models.

Kazuyuki Komatsu, Atsushi Sugie, Yohei Nitta et al. · 1 citation

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