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Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

Abstract Background C‐type natriuretic peptide (CNP, NPPC) and its receptor, natriuretic peptide receptor‐B (NPR‐B, NPR2), are critical for endochondral ossification. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth. This study was performed to identify the NPR2 mutat...

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Autores principales: Il Tae Hwang, Yusuke Mizuno, Naoko Amano, Hye Jin Lee, Young Suk Shim, Hyo‐Kyoung Nam, Young‐Jun Rhie, Seung Yang, Kee‐Hyoung Lee, Tomonobu Hasegawa, Min Jae Kang
Formato: Artigo
Lenguaje:Inglês
Publicado: Wiley 2020-03-01
Colección:Molecular Genetics & Genomic Medicine
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Acceso en línea:https://doi.org/10.1002/mgg3.1146
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