Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia

Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the NPR2 gene, w...

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Detalles Bibliográficos
Autores principales: Jacob, Marianne, Menon, Surabhi, Botti, Christina, Marshall, Ian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304185/
https://www.ncbi.nlm.nih.gov/pubmed/30622824
http://dx.doi.org/10.1155/2018/7658496

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