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Article

Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Jul 2024

Wengryn Parker, Fenrich Felicity, Silveira Karina da Costa, Oborn Connor, Mizumoto Shuji, Beke Alexander, Soltys Carrie-Lynn, Yamada Shuhei, Kannu Peter

Abstract excerpt

Lunatic Fringe (LFNG) is required for spinal development. Biallelic pathogenic variants cause spondylocostal dysostosis type-III (SCD3), a rare disease generally characterized by malformed, asymmetrical, and attenuated development of the vertebral column and ribs. However, a variety of SCD3 cases reported have presented with additional features such as auditory alterations and digit abnormalities. There has yet...

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Identifiers

PMID: 38924591
DOI: 10.1096/fj.202302651RR

Genes

LFNG

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