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- W2022741383 abstract "Rare disorders from Aarskog syndrome to the Zellweger syndrome do not appear in standard textbooks. Although individually rare, such inherited disorders number in thousands when considered together and form a significant proportion of disease. A patient with one of these disorders is likely to be seen in general practice from time to time. Fortunately for practitioners, several sources for reference now exist that could help in the management of patients and their families.The charitable sector often provides a good source of information for both patients and professionals. The charity Contact a Family (www.cafamily.org.uk/) has pioneered this with its first directory, published in 1991.1 Hard copies on paper or on CD are available from the charity. This …" @default.
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- W2022741383 date "2003-03-22" @default.
- W2022741383 modified "2023-09-27" @default.
- W2022741383 title "Useful information about rare inherited disorders" @default.
- W2022741383 doi "https://doi.org/10.1136/bmj.326.7390.612" @default.
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