An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene

We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes and a heterozygous p.Val883Met mutation in Npr2, the gene that encodes the CNP receptor NPR2 (natriuretic peptide receptor 2). When expressed in HEK293A cells, the mutant Npr2 cDNA generated intrace...

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Detalles Bibliográficos
Autores principales: Miura, Kohji, Namba, Noriyuki, Fujiwara, Makoto, Ohata, Yasuhisa, Ishida, Hidekazu, Kitaoka, Taichi, Kubota, Takuo, Hirai, Haruhiko, Higuchi, Chikahisa, Tsumaki, Noriyuki, Yoshikawa, Hideki, Sakai, Norio, Michigami, Toshimi, Ozono, Keiichi
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/PMC3411678/
https://www.ncbi.nlm.nih.gov/pubmed/22870295
http://dx.doi.org/10.1371/journal.pone.0042180

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