A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).

Saima MustafaZafrin AkhtarMuhammad LatifMubashir HassanMuhammad FaisalFurhan Iqbal

Published in: Genes & genomics (2020)

We are reporting that a novel nonsense mutation (c.613 C>T, p.R205X) in exon 1 of NPR2 gene is causing AMDM in a consanguineous Pakistani family.

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