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PROGRAM
10.45
Communications (R. Tenconi, Padova)
- Comments on SIGU congress and on Clinical Genetics meeting (Head to
Head in clinical genetics. Will clinical geneticists deliver real
benefits for patients?
YES: E. Di Maria Genova, MAYBE: P. Cavalli Cremona)
pdf file
11.15
Seminars:
- Analysis of candidate genes driven by the clinic: two examples (M.
Seri & C. Graziano, Bologna)
ppt file
- Classifications of ichthyoses (G. Tadini, Milano)
ppt file
Bringing up to date:
Gene expression profiling in Noonan syndrome (G.B. Ferrero, Torino)
13:00
Educational:
- Gestalt test in malformation syndromes (M. Priolo, Reggio Calabria)
13:20
Break
13:50
Ongoing projects:
- Follow-up and re-contact of families. Ready
(S. Belli, Trento)
ppt file
- Glossary of morphological signs: definition of external ears
position (M.F. Bedeschi, Milano)
ppt file
14:00
Papers in press/submitted
- Eyebrow anomalies as a diagnostic sign of genomic disorders (M.
Silengo et al. Torino, Pavia & Seattle)
14.10
Dysmorphology pitfalls in adult patients:
Diagnostic odyssey ends with the diagnosis made by the patient’
sister (E. Tarantino, Siena). And more…
Presentation and discussion of new cases:
17.00
Conclusions and Christmas greetings |