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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Detalles Bibliográficos
Autores principales: Müller, Eva, Dunstheimer, Desiree, Klammt, Jürgen, Friebe, Daniela, Kiess, Wieland, Kratzsch, Jürgen, Kruis, Tassilo, Laue, Sandy, Pfäffle, Roland, Wallborn, Tillmann, Heidemann, Peter H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365032/
https://www.ncbi.nlm.nih.gov/pubmed/22693602
http://dx.doi.org/10.1371/journal.pone.0038220

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365032/
https://www.ncbi.nlm.nih.gov/pubmed/22693602
http://dx.doi.org/10.1371/journal.pone.0038220

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