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Table 2 Genotype–phenotype correlation

From: Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

 

In helical domain

Not in helical domain

Affected limb

 Upper limb or both

0

7

 Lower limb

9

4

 P-value

0.005

 

Affected digits

 < 3

5

8

 ≥ 3

4

3

 P-value

0.642

 
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172