Common consultations

Helen V. Firth, Jane A. Hurst and Judith G. Hall

in Oxford Desk Reference - Clinical Genetics

Published on behalf of Oxford University Press

ISBN: 9780192628961
Published online October 2011 | e-ISBN: 9780191725715 | DOI:

Series: Oxford Desk Reference

Common consultations

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Chapter contents

Achondroplasia - Autosomal dominant polycystic kidney disease (ADPKD) - X-linked adrenoleukodystrophy (X-ALD) - Alpha1-antitrypsin deficiency - Alport syndrome - Androgen insensitivity syndrome (AIS) - Angelman syndrome - Autism and autism spectrum disorders - Beckwith–Wiedemann syndrome (BWS) - Congenital adrenal hyperplasia (CAH) - Consanguinity - Craniosynostosis - Cystic fibrosis (CF) - Dementia - Diabetes mellitus - Dilated cardiomyopathy (DCM) - DNA repair defects - Duchenne and Becker muscular dystrophy (DMD and BMD) - Ehlers–Danlos syndrome (EDS) - Epilepsy in infants and children - Epilepsy - Facioscapulohumeral muscular dystrophy (FSHD) - Fragile X syndrome (FRAX) - Glaucoma - Haemochromatosis - Haemoglobinopathies - Haemophilia and other inherited coagulation disorders - Hereditary haemorrhagic telangiectasia (HHT) - Hereditary motor and sensory neuropathy (HMSN) - Hereditary spastic paraplegias (HSP) - Hirschsprung disease - Huntington disease (HD) - Hyperlipidaemia - Hypertrophic cardiomyopathy (HCM) - Immunodeficiency and recurrent infection - Incest - Leigh encephalopathy - Limb girdle muscular dystrophies - Long QT and Brugada syndromes - Marfan syndrome - Mitochondrial DNA diseases - Myotonic dystrophy (DM) - Neural tube defects - Neurofibromatosis type 1 (NF1) - Noonan syndrome (NS) - Parkinson disease - Retinitis pigmentosa (RP) - Rett syndrome - Sensitivity to anaesthetic agents - Spinal muscular atrophy (SMA) - Stickler syndrome - Thrombophilia - Tuberous sclerosis (TSC)

Chapter.  100373 words.  Illustrated.

Subjects: Clinical Genetics

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