Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Intrauterine and postnatal longitudinal growth is controlled by a strong genetic component that regulates a complex network of endocrine factors integrating them with cellular proliferation, differentiation and apoptotic processes in target tissues, particularly the growth centers of the long bones....

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Hlavní autoři: Müller, Eva, Dunstheimer, Desiree, Klammt, Jürgen, Friebe, Daniela, Kiess, Wieland, Kratzsch, Jürgen, Kruis, Tassilo, Laue, Sandy, Pfäffle, Roland, Wallborn, Tillmann, Heidemann, Peter H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3365032/
https://ncbi.nlm.nih.gov/pubmed/22693602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0038220
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