Associated Papers
Atlantoaxial instability associated with ALDH18A1 mutation.
Lucas AT et al.
American Journal of Medical Genetics. Part A, 2023
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B et al.
American Journal of Human Genetics, 2015
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