Rare association of 15q26 deletion syndrome and lymphangioleiomyomatosis: diagnostic and therapeutic challenge

Abstract excerpt

<title>Abstract</title> <p>15q26 deletion syndrome is a rare genetic condition caused by the deletion of terminal end of the long arm of chromosome 15 (Drayer's syndrome). Clinical presentation usually implies intrauterine growth restriction, postnatal growth failure, varying degrees of intellectual disability, developmental delay, typical facial appearance, brachydactyly and diaphragmatic hernia. Lymphangioleiom...

Topics

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• Biomarkers
• Diagnosis, Differential
• Lung Diseases
• Mutation
• Signal Transduction
• Tuberous Sclerosis Complex 1 Protein
• Tuberous Sclerosis Complex 2 Protein
• Tumor Suppressor Proteins

Identifiers and source

Literature Corpus work

39cac1dc-9ca2-51cf-898f-f563a69adeb9

DOI

10.21203/rs.3.rs-6272150/v1