Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome

Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous autosomal recessive syndrome characterized by congenital cataracts, shortening of the proximal limbs, neurological abnormalities, seizures, growth delays, and severe intellectual disability. Most RCDP children die in the firs...

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Bibliographic Details
Main Authors: Ryan P. Liegel, Adam Ronchetti, D.J. Sidjanin
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mutation
AGPS
RCDP3
Mouse
Phenotype
Hypomorphic
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000433

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http://www.sciencedirect.com/science/article/pii/S2214426914000433

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