Emery and Rimoin's principles and practice of medical genetics and genomics.

Pyeritz, Reed E.

Emery and Rimoin's principles and practice of medical genetics and genomics. - 7th ed. - London : Academic Press, 2020 - 1 online resource (xv, 577 pages):illustrations (some color)

Section 1. Congenital heart defects -- Inherited cardiomyopathies -- Heritable and idiopathic forms of pulmonary arterial hypertension -- Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) -- Hereditary disorders of the lymphatic system and varicose veins -- The genetics of cardiac electrophysiology in humans -- Arteriopathy -- Genetics of blood pressure regulation -- Common genetic determinants of coagulation and fibrinolysis -- Genetics of atherosclerotic cardiovascular disease -- Disorders of the venous system -- Capillary malformation/arteriovenous malformation -- Section 2. Cystic fibrosis -- Genetic underpinnings of asthma and related traits -- Hereditary pulmonary emphysema -- LAM -- Interstitial and restrictive pulmonary disorders -- Section 3. Congenital anomalies of the kidney and urinary tract -- Cystic diseases of the kidney -- Nephrotic disorders -- Renal tubular disorders -- Section 4. Gastrointestinal tract and hepatobiliary duct system -- Inflammatory bowel disease -- Bile pigment metabolism and its disorders.

9780128126806 9780128125328
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