Mark Gardiner, Sarah Eisen and Catherine Murphy

in Training in Paediatrics

Published on behalf of Oxford University Press

Published in print September 2009 | ISBN: 9780199227730
Published online November 2012 | e-ISBN: 9780191753183 | DOI:

Series: Oxford Speciality Training


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Genetics and genomics - Human genetic disease - Paediatric clinical genetics - Trisomies: Down, Edwards, and Patau syndromes - Turner and Klinefelter syndromes - Microdeletion syndromes: DiGeorge, Williams - Marfan, Crouzon, and other syndromes - Neurofibromatosis type 1 and tuberous sclerosis - X-linked disorders: Fragile X and Rett syndrome - mtDNA and imprinted gene disorders - Case-based discussions

Chapter.  11743 words.  Illustrated.

Subjects: Paediatrics ; Clinical Genetics

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