A novel FLNA variant in a fetus with skeletal dysplasia

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 nove...

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Detalles Bibliográficos
Autores principales: Oshina, Kyoko, Kamei, Yoshimasa, Hori, Asuka, Hasegawa, Fuyuki, Taniguchi, Kosuke, Migita, Ohsuke, Itakura, Atsuo, Hata, Kenichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744731/
https://www.ncbi.nlm.nih.gov/pubmed/36509760
http://dx.doi.org/10.1038/s41439-022-00224-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744731/
https://www.ncbi.nlm.nih.gov/pubmed/36509760
http://dx.doi.org/10.1038/s41439-022-00224-7

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