The bulletin of the Yamaguchi Medical School

Continued by:Medical Science & Innovation
EISSN:2758-5441

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The bulletin of the Yamaguchi Medical School Volume 50 Issue 1-4
published_at 2003-12

A Family with Hereditary Protein C Deficiency and Brachydactyly Type A3

A Family with Hereditary Protein C Deficiency and Brachydactyly Type A3
Tominaga Takayuki
Nakamori Yoshitaka
Taguchi Akihito
Miyazaki Mutsuko
Sakuragi Shizu
Shinohara Kenji
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A020050000110.pdf
Descriptions
We diagnosed a patient with deep vein thrombosis with congenital type Ⅱprotain C deficiency from the mutation in the C-terminal part of the propeptide encoded by exon 3 whose mutation has already been reported and all of the other affected members of protein C deficiency had also shortening of the midphalanx of the little fingers, brachymesophalangia-5, type A3 of the midphalanx of the little fingers, brachmesophalangia-5, type A3 of brachydactyly. These two abnormalities are co-transmitted by a mechanism which remains tobe determined.
Creator Keywords
Protein C deficiency
brachydactyly type A3