A novel FLNA variant in a fetus with skeletal dysplasia
A novel FLNA variant in a fetus with skeletal dysplasia
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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...
Alternative Titles
Full title
A novel FLNA variant in a fetus with skeletal dysplasia
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TN_cdi_proquest_journals_2753448326
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2753448326
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-022-00224-7
