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Paper Details

Mutations in PYCR1 cause cutis laxa with progeroid features.
Nat Genet
165
2009
ARCL, Autosomal recessive cutis laxa, PYCR1, Xenopus, blistering, chromosome 17q25, cutis laxa, epidermal hypoplasia, fibroblasts, lax and wrinkled skin, mental retardation, mitochondria, orthologous genes, osteopenia, progeroid appearance, progeroid changes, progeroid features, proline, zebrafish

Datasets

Release 1.2