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Author Topic:   Hypophosphatemic Rickets
egean
Member
posted 07-06-2001 11:43 AM     Click Here to See the Profile for egean   Click Here to Email egean     Edit/Delete Message Reply w/Quote
My name is Esther Gean. I work as clinical genetist for the child-mother hospital Sant Joan de Du, in Barcelona.
We have two girls patients clinically and biochemically cataloged as suffering from hypophosphatemic rickets. We would like to know if you are aware of any laboratory performing molecular studies on this entity.
These two patients are being controled by the Pediatry and Nephrology departments. We will be glad to supply whatever clinical information may be need, as well as patient 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
Genetics Section
Hospital sant Joan de Du. Barcelona. Spain
Tel: +34 93253 21 03
FAX; +34 93280366

IP: 62.81.177.226

Gnovelli
Member
posted 07-23-2002 08:47 AM     Click Here to See the Profile for Gnovelli   Click Here to Email Gnovelli     Edit/Delete Message Reply w/Quote
quote:
Originally posted by egean:
My name is Esther Gean. I work as clinical genetist for the child-mother hospital Sant Joan de Du, in Barcelona.
We have two girls patients clinically and biochemically cataloged as suffering from hypophosphatemic rickets. We would like to know if you are aware of any laboratory performing molecular studies on this entity.
These two patients are being controled by the Pediatry and Nephrology departments. We will be glad to supply whatever clinical information may be need, as well as patient 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
Genetics Section
Hospital sant Joan de Du. Barcelona. Spain
Tel: +34 93253 21 03
FAX; +34 93280366


We are interested in studying mutation in this disorder. Please contact me directly for further information.

Giuseppe Novelli
Rome

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