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Author Topic:   STICKLER SYNDROME
egean
Member
posted 07-06-2001 11:58 AM     Click Here to See the Profile for egean   Click Here to Email egean     Edit/Delete Message Reply w/Quote
Dear Sir,

My name is Esther Gean. I work as clinical genetist for the maternal children's Hospital Sant Joan de Du, in Barcelona.
We have a patient clinically diagnosed as Stickler syndrome. We would like to know if you are aware of any laboratory performing molecular studies on this entity. Our patient is the first daughter from healthy, non-consanguineous parents.
We will be glad to supply whatever clinical information may be need, as well as patient and/or parents blood or DNA samples.
I will be very grateful for any information you may be able to provide us. Please fell free to contact me at egean@hsjdbcn.org.
Thank you for your help and interest.

Sincerely,

Esther Gen,MD,PhD
Genetics Section
Hospital Sant Joan de Du. Barcelona. Spain
Tel: +34 93253 21 03
FAX: +34 93280 36 26

IP: 62.81.177.226

jkennedy
Member
posted 01-14-2003 02:15 PM     Click Here to See the Profile for jkennedy   Click Here to Email jkennedy     Edit/Delete Message Reply w/Quote
See www.esdn.org - Stickler mutation screening is offered via the European Skeletal Dysplasia network, there is NO charge - however, diagnostic criteria must be met in advance before submitting samples (X-rays etc). Contact the ESDN administrator for further details.

IP: 193.60.159.61

All times are ET (US)

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