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Á. Herrador-Montiel

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Sep 2026

Familial ROSAH Syndrome Associated with the ALPK1 p.Thr237Ala Variant: Divergent Ocular Phenotypes and Partial Response to IL-6 Blockade.

PURPOSE To report phenotypic variability and treatment response in familial ROSAH syndrome associated with the ALPK1 p.Thr237Ala variant. METHODS Longitudinal observational familial case series of a mother-daughter pair with ALPK1-associated ROSAH syndrome. The daughter carried a heterozygous ALPK1 p.Thr237Ala varian...

V. Llorenç, Á. Herrador-Montiel, J. Aróstegui et al. · 0 citations

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