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Inborn errors of development: the molecular basis of clinical disorders of morphogenesis
  1. I D Young

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    Edited by C J Epstein, R P Erickson, A Wynshaw-Boris. Oxford: Oxford University Press, 2003, £150, pp 1082. ISBN 0-19-514502-X (hardback).

    The third edition of David Smith’s outstanding textbook, Recognizable patterns of human malformation, was published in 1982. It consisted of 652 pages with detailed descriptions of over 250 malformation syndromes. It was, and remains, an excellent book. Yet it did not contain a single mention of molecular pathogenesis or an underlying mutational spectrum.

    How times have changed. Now, thanks to extraordinary developments in molecular biology, it is …

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