Medical information
Over the past few years, we have gathered together a few pieces of valuable information for both the people who share this rare genetic condition and also for the use of the medical profession across the world. We have listed a few below. Please feel free to download anything you would like.
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In order to be able to read / download the documents you will need to have the Acrobat Reader installed on your PC. If you do not have this program available you can download it by clicking on the Adobe Logo. If you encounter any difficulties downloading, please send us an E-mail at npsuk_info@yahoo.co.uk after receipt of which we will send you the required information by email. | |
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Gene Reviews Document - This was first written on 31st May 2003 by Dr. Elizabeth Sweeney and Dr Iain Mcintosh. It is a wonderful piece of work and we feel that it can be of great value to both the medical profession and also for the general public who may be interested in learning about Nail Patella Syndrome. |
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NPS Informational brochure - This was written early in 2000 as a piece of information that can be used by many patients who share this rare genetic condition. It can be useful to print out and take to your GP to let them know that there is much more information now available to them. | |
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NPS- A review of the phenotype aided by developmental biology - This informational guide was written by Dr Elizabeth Sweeney et al. It is a wonderful informative document and includes many aspects of the condition with photographic evidence also. | |
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Ophthalmological findings - Interesting information relating to the eyes. | |
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Genomics 2004 - This information was accepted in June 2004. It describes the human LMX1B gene. It describes the transcription unit, promoter and pathogenic mutations. Very interesting, especially within the genetics field. | |
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NPS Mutation List - This informational is very valuable for anyone interested in finding out about the mapping of the LMX1B gene. | |
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NPS Informational guide for families - This information was put together by Dr Elizabeth Sweeney for the benefit of many families who live with this condition. It is easy to understand and is of great use to many of us. We would highly recommend this as a good piece of work. | |
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NPS Occupational Therapy Article - This was written in 2004 and is very interesting to read. | |
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NPS NORD - Interesting, especially for the medical profession. | |
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Genetests - Laboratories offering clinical testing | |
The information provided by NPS(UK) is intended to be used as a general guide only, and is not intended to replace the advice on diagnosis or treatment available from your own doctor.
