Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III w...
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis
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Publisher
United States: Hindawi
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Language
English
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Publisher
United States: Hindawi
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Contents
Scoliosis affects over four million Americans, with most cases having an idiopathic cause. Pathogenic variants in the LUNATIC FRINGE (LFNG) gene can cause spondylocostal dysostosis type-III (SCD3), which is a rare skeletal dysplasia characterized by the absence, fusion, or partial development of vertebrae and ribs. Acute restrictive lung disease an...
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Full title
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11919168
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11919168
Other Identifiers
ISSN
1098-1004,1059-7794
E-ISSN
1098-1004
DOI
10.1155/2023/5989733
