Article

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy Using Uniparental Disomy and Joint Whole Genome Analysis

2024-06-21

Abstract excerpt

<h4>Purpose: </h4> Investigation for the co-occurrence of two unrelated genetic disorders of muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM # 176270) using joint whole genome sequencing (WGS). <h4>Methods:</h4> Trio WGS joint analysis was performed to investigate the genetic etiology in a proband with PWS, prolonged muscular hypotonia associated hyperCKemia, and early-onset obesity. The parents were unaf...

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Literature Corpus work: 554c46cd-fee1-5401-b29b-fbc11ca58c09
DOI: 10.20944/preprints202406.1485.v1

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