Associated Papers
Atlantoaxial instability associated with ALDH18A1 mutation.
Lucas AT et al.
American Journal of Medical Genetics. Part A, 2023
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Zaman Q et al.
The Journal of Gene Medicine, 2023
Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature.
Vats P et al.
Neurology India, 0
Select a paper to view details