CYP11B1 variants influence skeletal maturation via alternative splicing

We performed genome-wide association study meta-analysis to identify genetic determinants of skeletal age (SA) deviating in multiple growth disorders. The joint meta-analysis (N = 4557) in two multiethnic cohorts of school-aged children identified one locus, CYP11B1 (expression confined to the adren...

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Detalles Bibliográficos
Autores principales: Grgic, Olja, Gazzara, Matthew R., Chesi, Alessandra, Medina-Gomez, Carolina, Cousminer, Diana L., Mitchell, Jonathan A., Prijatelj, Vid, de Vries, Jard, Shevroja, Enisa, McCormack, Shana E., Kalkwarf, Heidi J., Lappe, Joan M., Gilsanz, Vicente, Oberfield, Sharon E., Shepherd, John A., Kelly, Andrea, Mahboubi, Soroosh, Faucz, Fabio R., Feelders, Richard A., de Jong, Frank H., Uitterlinden, Andre G., Visser, Jenny A., Ghanem, Louis R., Wolvius, Eppo B., Hofland, Leo J., Stratakis, Constantine A., Zemel, Babette S., Barash, Yoseph, Grant, Struan F. A., Rivadeneira, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8578655/
https://www.ncbi.nlm.nih.gov/pubmed/34754074
http://dx.doi.org/10.1038/s42003-021-02774-y

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