Associated Papers
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Accogli A et al.
Brain Communications, 2023
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.
Türkyılmaz A et al.
Clinical Genetics, 2022
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