Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Priestley, JRC; Deshwar, AR; Murthy, H; D'Agostino, MD; Dupuis, L; Gangaram, B; Gray, C; Jobling, R; Pannia, E; Platzer, K; Prescott, K; Redman, M; Rippert, AL; Rosenfeld, JA; Scott, DA; Wang, YW; Schmederer, Z; Dalal, A; Sarma, AS; Skraban, C; Dowling, JJ; Mendoza-Londono, R; Slavotinek, A; Bhoj, EJ

Bhoj, EJ (通讯作者)，Childrens Hosp Philadelphia, Div Genet, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA.

GENETICS IN MEDICINE, 2023; 25 (8):

Abstract

Purpose: Bone morphogenic proteins (BMPs) regulate gene expression that is related to many critical developmental processes, including osteogenesis fo......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索