HUM-MOLGEN DIAGnostics/Clinical Research

6 August 1998
Campomelic dysplasia 

We had a patient in which we made the prenatal diagnosis, by ultrasound criteria, of campomelic dysplasia. The chromosomes were normal. We are trying to find someone working with SOX 9 gene that would be interested in
checking the DNA of this fetus for mutations of campomelic dysplasia.

Thank you

Jose Ferreira, M.D.
Genetics Fellow, Montefiore Medical Center (AECOM), New York