Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.10.006
Abstract: Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature,… read more here.
Keywords: bmp2 variants; short stature; bmp2; skeletal cardiac ... See more keywords
Morphology of Sella Turcica and Bridging Prevalence Correlated with Sex and Craniofacial Skeletal Pattern in Eastern Asia Population: CBCT Study
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DOI: 10.1155/2021/6646406
Abstract: Purpose Sella turcica bridging (STB) refers to a rare anatomical variation formed by the ossification of the ligament between the anterior and posterior clinoid processes. The presence of the STB was significantly correlated with craniofacial… read more here.
Keywords: turcica dimensions; sella; sella turcica; prevalence ... See more keywords
Osteoblastic RAR Inhibition Causes VAD-Like Craniofacial Skeletal Deformity
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Dental Research"
DOI: 10.1177/00220345231151691
Abstract: Retinoid signaling disorders cause craniofacial deformity, among which infants with maternal vitamin A deficiency (VAD) exhibited malformation of the eye, nose, palate, and parietal and jaw bone. Previous research uncovered the pathogenesis of eye defect… read more here.
Keywords: rar; craniofacial skeletal; inhibition; osteoblastic rar ... See more keywords