Analia Yogi, Ryosei Iemura, Hisae Nakatani, Kei Takasawa, Maki Gau, Takeru Yamauchi, Masayuki Yoshida, Keiji Moriyama, Taku Ishii, Susumu Hosokawa, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Kenichi Kashimada, Tomohiro Morio
BMP2 (bone morphogenic protein-2) is a member of the TGF-β superfamily and has essential roles in the development of multiple organs, including osteogenesis. Because of its crucial role in organ and skeletal development, Bmp2 null mice is fetal lethal. The recent report has characterized multiple patients with BMP2 haploinsufficiency, describing individuals with BMP2 sequence variants and deletions associated with short stature without endocrinological abnormalities, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease...
August 10, 2023: European Journal of Medical Genetics