Article

A complex presentation of hypermobility in a patient with an isolated ELN gene mutation and phenotype-genotype analysis of isolated ELN mutation variants: a case report and literature review

2023-07-24

Abstract excerpt

<h4>Background: </h4> Intragenic deletions in the elastin ( ELN ) gene have previously been associated with the cutis laxa phenotype and a variety of cardiovascular manifestations. However, the precise correlation between deletion location and observed phenotype has not been well reported. Even less reported are isolated ELN deletions causing a joint hypermobility phenotype that mimics hypermobile Ehlers-Danlos sy...

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Literature Corpus work: ead5d51b-018c-564e-b613-6a9bccacf96f
DOI: 10.21203/rs.3.rs-3171607/v1

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