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  OMIM 268400: Rothmund-Thomson Syndrome

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Author Topic:   OMIM 268400: Rothmund-Thomson Syndrome
DIAG Editor
posted 10-21-1999 05:24 PM           Edit/Delete Message Reply w/Quote
Dear Colleagues,

We are conducting research on the biology and genetic basis of Rothmund-Thomson Syndrome (RTS) which is a rare medical disorder characterized by poikiloderma, small stature, skeletal dysplasias, juvenile cataracts, and increased risk of certain types of cancers. Mutations in the RTS gene have recently been identified, and we are performing mutational analysis on a research basis on patients with RTS. We are also interested in better defining the clinical phenotype and appropriate medical management of these patients, and are pursuinggenotype-phenotype correlation studies and determining whether genetic heterogeneity exists for this disorder. We are identifying patients and families with Rothmund-Thomson syndrome anywhere in the U. S. or internationally.

Dr.Sharon Plon or Dr. Lisa Wang at Baylor College of Medicine, Houston, TX.
E-mail: splon@bcm.tmc.edu or llwang@bcm.tmc.edu
Phone (1-800-CANCER-9 or 713-770-3334)
Fax (713-770-4202).
Please visit our website at http://www.tccc.tch.tmc.edu/disease/rts/


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