Associated Papers
Ocular Manifestations in Congenital Cutis Laxa: A Case Series.
Van Slycken A et al.
Cornea, 2025
Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.
Shangguan S et al.
Molecular Genetics and Genomics : Mgg, 2024
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A et al.
International Journal of Molecular Sciences, 2017
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A et al.
Molecular Genetics and Metabolism, 2013
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B et al.
Nature Genetics, 2009
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