Author
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Topic: Hypophosphatemic Rickets
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egean Member
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posted 07-06-2001 11:43 AM
My name is Esther Gean. I work as clinical genetist for the child-mother hospital Sant Joan de Déu, 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 Geán, MD Genetics Section Hospital sant Joan de Déu. Barcelona. Spain Tel: +34 93253 21 03 FAX; +34 93280366 IP: 62.81.177.226 |
Gnovelli Member
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posted 07-23-2002 08:47 AM
quote: Originally posted by egean: My name is Esther Gean. I work as clinical genetist for the child-mother hospital Sant Joan de Déu, 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 Geán, MD Genetics Section Hospital sant Joan de Déu. 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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IP: 160.80.52.144 |