Associated Papers
RMND1 and PLN variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient.
Du X et al.
Clinical Case Reports, 2024
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications.
Rioux AV et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
Oziębło D et al.
Genes, 2020
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