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

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

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...

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Bibliographic Details
Main Authors: Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao
Format: Article
Language:English
Published: BMC 2021-08-01
Series:BMC Medical Genomics
Subjects:
SOFT syndrome
POC1A
Splicing variant
Short stature
Case report
Online Access:https://doi.org/10.1186/s12920-021-01055-1

Internet

https://doi.org/10.1186/s12920-021-01055-1

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