Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

• Main Authors: Guoqiang Li (Author), Guoying Chang (Author), Chen Wang (Author), Tingting Yu (Author), Niu Li (Author), Xiaodong Huang (Author), Xiumin Wang (Author), Jian Wang (Author), Jiwen Wang (Author), Ruen Yao (Author)
• Format: Book
• Published: BMC, 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis.The main clinical differences between SOFT an...