Common genetic conditions

Guy Bradley-Smith, Sally Hope, Helen v. Firth and Jane A. Hurst

in Oxford Handbook of Genetics

Published on behalf of Oxford University Press

ISBN: 9780199545360
Published online August 2010 | e-ISBN: 9780199598922 | DOI:

Series: Oxford Medical Handbooks

Common genetic conditions

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Introduction - Alpha1-antitrypsin deficiency - Autism and autism spectrum disorders - Autosomal dominant polycystic kidney disease (ADPKD) - Cystic fibrosis (CF) - Duchenne and Becker muscular dystrophy (DMD and BMD) - Ehlers–Danlos syndrome (EDS) - Fragile X syndrome (FRAX) - Haemochromatosis - Haemoglobinopathies - Haemophilia and other inherited coagulation disorders - Hereditary motor sensory neuropathy (HMSN/CMT) - Huntington disease (HD) - Marfan syndrome (MFS) - Myotonic dystrophy (MD) - Neurofibromatosis type 1 (NF1) - Noonan syndrome (NS) - Retinitis pigmentosa (RP) - Spinal muscular atrophy (SMA) - Stickler syndrome - Tuberous sclerosis (TSC)

Chapter.  23340 words.  Illustrated.

Subjects: Clinical Genetics

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