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Table 1 Phenotypes of VHL disease caused by VHL c.208 g > A

From: Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report

Family

Gender

FH

CHB

RHB

Others

Reference

1

M

Proband

-

 + 

Polycythemia

-

F

Mother

-

 + 

RC

M

Brother

-

 + 

-

2

M

-

 + 

-

-

[6]

3

M

-

 + 

-

-

[7]

4

F

Proband

-

 + 

-

[7]

M

Son

-

-

-

5

F

Proband

-

 + 

-

[7]

6

M

-

 + 

-

-

[8]

7

M

-

 + 

-

-

[8]

8

M

-

 + 

X

X

[8]

9

M

-

-

 + 

-

[8]

10

F

-

 + 

-

Cs

[8]

11

F

-

 + 

-

Cs

[8]

12

F

-

-

 + 

-

[8]

13

F

-

 + 

-

-

[8]

14

M

Proband

 + 

X

RCC, CA

[9]

M

Son

-

-

-

  1. Abbreviations: M Male, F Female, FH Family history, CHB Central nervous system hemangioblastoma, RHB Retinal hemangioblastoma, RC Renal cyst, Cs Pancreatic cyst, renal or hepatic cyst, RCC Renal cell carcinoma, CA Colorectal adenocarcinoma, X Data not available