Associated Papers
De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets.
Chandan S et al.
Clinical Case Reports, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG9
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.
Bhola PT et al.
Journal of Human Genetics, 2017
Select a paper to view details