Associated Papers
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D et al.
Human Genetics, 2018
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Zampatti S et al.
American Journal of Medical Genetics. Part A, 2012
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B et al.
Nature Genetics, 2009
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