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Common genetic conditions 

Common genetic conditions
Chapter:
Common genetic conditions
Author(s):

Guy Bradley-Smith

, Sally Hope

, Helen v. Firth

, and Jane A. Hurst

DOI:
10.1093/med/9780199545360.003.05
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date: 21 October 2020

Introduction 90

Alpha1-antitrypsin deficiency 92

Autism and autism spectrum disorders 96

Autosomal dominant polycystic kidney disease (ADPKD) 100

Cystic fibrosis (CF) 104

Duchenne and Becker muscular dystrophy (DMD and BMD) 112

Ehlers–Danlos syndrome (EDS) 118

Fragile X syndrome (FRAX) 122

Haemochromatosis 126

Haemoglobinopathies ...

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