A Family with Hereditary Protein C Deficiency and Brachydactyly Type A3

A Family with Hereditary Protein C Deficiency and Brachydactyly Type A3

Creators Tominaga Takayuki

Creators Nakamori Yoshitaka

Creators Taguchi Akihito

Creators Miyazaki Mutsuko

Creators Sakuragi Shizu

Creators Shinohara Kenji

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.

[ISSN]0513-1812

[NCID]AA00594272