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Table 2 Correlation between clinical features and deletion length (excluding Patient 2 with deletion > 5.5 Mb)

From: Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

 

Length

p-value1

Median (range)

Overall Severity of NF

Mild/moderate

N = 9

1,339,470 (1,136,399–1,472,314)

0.1356

Severe

N = 12

1,383,592 (1,172,942–1,501,344)

 

Plexiform neurofibromas

No

N = 7

1,361,336 (1,172,942–1,415,978)

0.2576

Yes

N = 11

1,378,007 (1,170,165–1,501,344)

 

Lisch Nodules

No

N = 4

1,349,299 (1,308,064–1,446,618)

0.4404

Yes

N = 9

1,376,701 (1,136,399–1,472,314)

 

Macrocephaly

No

N = 5

1,376,701 (1,308,064–1,446,618)

0.7389

Yes

N = 9

1,375,509 (1,170,165–1,415,978)

 

Learning Difficulties

No

N = 2

1,171,554 (1,170,165–1,172,942)

0.0253

Yes

N = 15

1,376,701 (1,308,064–1,501,344)

 

Scoliosis

No

N = 13

1,378,007 (1,170,165–1,501,344)

0.8825

Yes

N = 5

1,376,701 (1,339,470–1,437,879)

 

Other Malignancies

No

N = 16

1,376,758 (1,170,165–1,501,344)

0.3447

Yes

N = 4

1,407,290 (1,361,336–1,472,314)

 
  1. 1 Mann-Whitney test
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BMC Medical Genomics

ISSN: 1755-8794

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