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

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 mutations in...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Genomic Med
Päätekijät: Hwang, Il Tae, Mizuno, Yusuke, Amano, Naoko, Lee, Hye Jin, Shim, Young Suk, Nam, Hyo‐Kyoung, Rhie, Young‐Jun, Yang, Seung, Lee, Kee‐Hyoung, Hasegawa, Tomonobu, Kang, Min Jae
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2020
Aiheet:
Original Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057090/
https://ncbi.nlm.nih.gov/pubmed/31960617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1146
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