000 01897cam a2200241 4500
001 9780128126806
008 220107t2020 xxu||||| |||| 00| 0 eng d
020 _a9780128126806
020 _a9780128125328
041 _aeng
100 _aPyeritz, Reed E.
245 0 _aEmery and Rimoin's principles and practice of medical genetics and genomics.
250 _a7th ed.
260 _aLondon :
_bAcademic Press,
_c2020
300 _a1 online resource (xv, 577 pages):illustrations (some color)
505 _aSection 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.
690 _aMedical genetics.
690 _aCardiovascular, respiratory, and gastrointestinal disorders
700 _aKorf, Bruce R.
700 _aGrody, Wayne W.
856 _uhttps://go.openathens.net/redirector/nhs?url=https://www.clinicalkey.com/dura/browse/bookChapter/3-s2.0-C20160034198
999 _c58671
_d58671