Article
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
PLoS genetics - 1 May 2016
Hytönen Marjo K, Arumilli Meharji, Lappalainen Anu K, Owczarek-Lipska Marta, Jagannathan Vidhya, Hundi Sruthi, Salmela Elina, Venta Patrick, Sarkiala Eva, Jokinen Tarja, Gorgas Daniela, Kere Juha, Nieminen Pekka, Drögemüller Cord, Lohi Hannes
Abstract excerpt
One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening...
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