WNT10B, a member of the WNT family of secreted glycoproteins, activates the WNT/β-
catenin signaling cascade to control proliferation, stemness, pluripotency, and cell fate …

Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders
characterized by abnormal development, remodeling, and growth of the human skeleton's …

Split-hand/foot malformation (SHFM) is a congenital limb defect most typically presenting
with median clefts in hands and/or feet, that can occur in a syndromic context as well as in …

一例手足裂畸形6 型家系的致病变异鉴定及胚胎植入前遗传学检测 Page 1 Hereditas (Beijing)
2024 年9 月, 46(9): 750―756 www.chinagene.cn 收稿日期: 2024-06-06; 修回日期: 2024-08-06; …

Introduction: Split hand and foot malformation (SHFM) or ectrodactyly is a rare limb deformity
characterized by median cleft of the hand and foot with impaired or missing central rays. It …

Background Tumor protein p63 is an important transcription factor regulating epithelial
morphogenesis. Variants associated with the TP63 gene are known to cause multiple …

Genetic skeletal disorders (GSDs) are heritably and clinically varied classes of bone and
cartilage anomalies, characterized by irregular growth/development of the skeleton. They …

Background Genetic/hereditary skeletal disorders (GSDs) represent a diverse set of
clinical/genetical conditions that arise from the mutations in different candidate genes …