학술논문
A novel FLNA variant in a fetus with skeletal dysplasia
Document Type
Original Paper
Author
Source
Human Genome Variation. 9(1)
Subject
Language
English
ISSN
2054-345X
Abstract
Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA. FLNA variants associated with lethal OPDSD primarily alter the CH2 subdomain of the ABD of FLNA. Herein, we report a novel FLNA mutation in a fetus with severe skeletal dysplasia in a pregnant multigravida female with a history of repeated miscarriages and terminations.