Article

Geleophysic Dysplasia with Novel ADAMTSL2 Compound Heterozygous Mutations: A Case Report of Progressive Skeletal Dysplasia with Multisystem Involvement

2025-09-30

Abstract excerpt

<h4>Background: </h4> /Objectives: Geleophysic dysplasia is an extremely rare autosomal recessive skeletal dysplasia characterized by short stature, joint contractures, and distinctive facial features. Most cases result from ADAMTSL2 mutations affecting extracellular matrix organization. With fewer than 100 documented cases worldwide, long-term clinical data remains limited. This report documents a comprehensive 2...

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Literature Corpus work: 6bca7d4a-209d-5dcc-9f8d-66f73fb573ea
DOI: 10.20944/preprints202509.2491.v1

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