STICKLER SYNDROME - HUM-MOLGEN

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STICKLER SYNDROME

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Topic: STICKLER SYNDROME

egean
Member

posted 07-06-2001 11:58 AM

Dear Sir,

My name is Esther Gean. I work as clinical genetist for the maternal children's Hospital Sant Joan de Déu, 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 Geán,MD,PhD
Genetics Section
Hospital Sant Joan de Déu. 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

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

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