Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield
X Zhang, Y Ren, R Song, L Wang, H Xu… - Prenatal …, 2021 - Wiley Online Library
Objective To investigate the genetic etiology of skeletal dysplasia in highly selected fetuses
during the first and second trimesters using deep phenotyping and exome sequencing (ES) …
during the first and second trimesters using deep phenotyping and exome sequencing (ES) …
The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA
C Liu, W Tang, H Zhao, S Yang, Z Ren, J Li… - The …, 2021 - nature.com
Background Filamin A and filamin B were involved in vascular development and
remodeling. Herein, it is important to explore the associations of FLNA and FLNB variants …
remodeling. Herein, it is important to explore the associations of FLNA and FLNB variants …
[HTML][HTML] Whole exome sequencing aids the diagnosis of fetal skeletal dysplasia
H Tang, Q Zhang, J Xiang, L Yin, J Wang… - Frontiers in genetics, 2021 - frontiersin.org
Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical
and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to …
and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to …
[HTML][HTML] An orthodontic perspective on Larsen syndrome
M Yasunaga, H Ishikawa, K Yanagita, S Tamaoki - BMC Oral Health, 2021 - Springer
Background Larsen syndrome (LS) is a rare disorder of osteochondrodysplasia. In addition
to large-joint dislocations, craniofacial anomalies are typical characteristics. In this report, we …
to large-joint dislocations, craniofacial anomalies are typical characteristics. In this report, we …