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Table 1

From: Genetic testing and immunohistochemistry for SDHB in phaeochromocytoma-paraganglioma syndromes: the South Australian experience

Phenotype

No.

Number with mutation identified

  

Total

RET

VHL

SDHB

SDHC

SDHD

Apparently sporadic unilateral PC

10^

1

-

-

1*

-

-

Familial PC

1

1

-

1

-

-

-

PC & MEN2 features

3

3

3

-

-

-

-

Apparently sporadic head & neck PGL

4

2

-

-

-

1

1

Familial head & neck PGL

3

1

-

-

-

-

1

Apparently sporadic malignant abdominal PGL

3

2

-

-

2

-

-

TOTAL

24

10

3

1

3

1

2

  1. * presented with unilateral PC and developed a head and neck PGL 14 years after the PC
  2. ^ VHL and RET testing incomplete in 2 (complete testing will be presented at the meeting)