A novel FLNA variant in a fetus with skeletal dysplasia
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 repo...
Main Authors: | Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2022-12-01
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Series: | Human Genome Variation |
Online Access: | https://doi.org/10.1038/s41439-022-00224-7 |
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