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Prader–Willi and PURA Syndromes Concurrently Diagnosed Using High-Throughput Sequencing with Methylation-Specific Multiplex Ligation-Dependent Probe Amplification: A Case Report

2025-12-08

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> A broad and heterogeneous spectrum of disorders present as feeding difficulties and hypotonia during the neonatal period, which are characterized by complex etiologies, diverse clinical manifestations, and considerable symptom overlap, posing diagnostic challenges. The co-occurrence of different genetic disorders in a single patient is rare. We report the a c...

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Literature Corpus work: c643d7d2-a07c-5e63-9acf-9140e0b4677b
DOI: 10.21203/rs.3.rs-7941293/v1

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