A novel FLNA variant in a fetus with skeletal dysplasia

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...

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Bibliographic Details
Main Authors: Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata
Format: Article
Language:English
Published: Nature Publishing Group 2022-12-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00224-7

Internet

https://doi.org/10.1038/s41439-022-00224-7

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