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Table 1 Genetic mutations of early treated (before 1st birthday; group A) and later treated (after 1st birthday; group B) patients

From: Early start of growth hormone is associated with positive effects on auxology and metabolism in Prader-Willi-syndrome

 

Group A (n = 21)

Group B (n = 41)

Paternal deletion

n = 10 (47.6%)

n = 9 (21.95%)

Maternal uniparental disomy

n = 1 (4.8%)

n = 18 (43.9%)

Imprinting defect

n = 1 (4.8%)

n = 0 (0%)

Genetically confirmed PWS, no subtype

n = 9 (42.8%)

n = 14 (34.15%)