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{} Netscape[Clinical genetics. A changing discipline. Report of the Portuguese Society for Clinical Genetics’ second workgroup conference, Porto, October 31-November 2, 1999].
Here we report the annual workgroup meeting of the Portuguese Society for Clinical Genetics, held in the Faculty of Medicine of the University of Porto, in the month of October, 1999, discussing issues related to clinical genetics. Preliminary conclusions of that meeting are also reported. The most outstanding contributions were made by Dr. Maria Jesus Silveira, a clinician working in the Hospital Center of the R.C.E.S. of Viseu, whose presentation dealt with the identification of patients carrying missense mutations in the gene for hereditary nonpolyposis colorectal cancer; Dr. José M. Marques, a medical geneticist with a clinical practice at the Hospital Infantil Joana de Gusmão, in the city of Oporto, who presented his work on the molecular diagnosis of refractory granulomatous enterocolitis; and Dr. Eduardo Almeida, a medical geneticist from the Centro Hospitalar Universitário de São João, in the city of Porto, who presented his work on the identification of patients carrying CYP21A2 mutations leading to the diagnosis of congenital adrenal hyperplasia due to
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