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  Ehlers-Danlos syndrome, progeroid form (OMIM 130070)

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Author Topic:   Ehlers-Danlos syndrome, progeroid form (OMIM 130070)
gercar
unregistered
posted 02-10-2000 02:04 PM           Edit/Delete Message Reply w/Quote
Dear Colleagues,
I have a family with a 4-year-old boy with Ehlers-Danlos syndrome, progeroid form (OMIM 130070). The gene map locus for this disease is located at 5q35.1-q35.3. Okajima et al of Nagoya University School of Medicine, Japan, searched for mutations in the patient originally published by Kresse et al in 1987 and they managed to shed some light on the molecular basis for this rare genetic entity (see recently paper published in J. Biol. Chem 1999, Oct 8, 274 (41): 28841-4.

Our family is available for DNA studies. We are looking for anyone interested in joining a collaborative research project of this family.

Gerson Carakushansky, M.D., Ph. D.
Chief Genetic Unit
Pediatric Institute
Federal University of Rio de Janeiro (UFRJ)

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