Associated Papers
From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.
Lee CL et al.
Children (basel, Switzerland), 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG9
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S et al.
American Journal of Medical Genetics. Part A, 2021
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
Marco-Marín C et al.
Journal of Inherited Metabolic Disease, 2020
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