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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Detalles Bibliográficos
Autores principales: Liegel, Ryan P., Ronchetti, Adam, Sidjanin, D.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151185/
https://www.ncbi.nlm.nih.gov/pubmed/25197626
http://dx.doi.org/10.1016/j.ymgmr.2014.06.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151185/
https://www.ncbi.nlm.nih.gov/pubmed/25197626
http://dx.doi.org/10.1016/j.ymgmr.2014.06.003

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