Paternal UPD14 is responsible for a distinctive malformation complex (original) (raw)

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Investigates paternal uniparental disomy of chromosome 14q (patUPD14) through case studies of three patients, revealing it constitutes a distinctive syndrome characterized by abdominal muscular defects, skeletal anomalies, and facial features. Contrasts the phenotype with maternal UPD14 and highlights the potential commonality of patUPD14 cases, suggesting it may be more prevalent than previously recognized.

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