Associated Papers
A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene.
Boulling A et al.
Genetics, Selection, Evolution : Gse, 2025
Congenital heart defects common in rhizomelic chondrodysplasia punctata.
Duker AL et al.
American Journal of Medical Genetics. Part A, 2016
Rhizomelic chondrodysplasia punctata and cardiac pathology.
Huffnagel IC et al.
Journal of Medical Genetics, 2013
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
Itzkovitz B et al.
Human Mutation, 2012
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
Nimmo G et al.
American Journal of Medical Genetics. Part A, 2010
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