HUM-MOLGEN DIAGnostics/Clinical Research

February, 17 1999
Oral-facial-digital type I syndrome (OFDI)

Dear colleagues,

Our lab is involved in the identification of disease genes from the Xp22 region. We are very interested in obtaining DNA and or cell lines from sporadic and familial cases of Oral-facial-digital type I syndrome (OFDI), which has been recently mapped to the Xp22 region. The familial cases will be used for linkage stuides in order to reduce the critical region. In the
meantime, we are performing mutation analysis with a few candidate genes that we have already isolated from the OFDI
critical region.

I would be pleased to collaborate with anyone who may have suitable patient for this study.


Brunella Franco, M.D.
Research Unit Coordinator
T.I.G.E.M. (Telethon Institute of Genetics and Medicine)
Via Olgettina 58
20132 MILANO
TEL 011-39-02-21560202
FAX 011-39-02-21560220