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Article

Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.

American journal of medical genetics. Part A - 1 Aug 2025

Russo Federica, Daolio Cecilia, Di Muro Ester, Pezzoli Laura, Goisis Lucrezia, Vaccaro Lorenzo, Iascone Maria, Cacchiarelli Davide, Castori Marco, Micale Lucia

Abstract excerpt

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) Type 1 is a rare hereditary connective tissue disorder due to biallelic deleterious variants in PLOD1 and is mainly characterized by hypotonia, congenital kyphoscoliosis, eye fragility, hyperextensible skin, Marfanoid habitus, and joint hypermobility. In PLOD1-kEDS, deleterious variants are typically loss-of-function alleles. Therefore, the identification of private...

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Identifiers

PMID: 40205938
DOI: 10.1002/ajmg.a.64085

Genes

PLOD1

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Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.PMID 40205938Read ↗

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