RT Book, Section A1 Prockop, Darwin J. A1 Bateman, John F. A2 Jameson, J. Larry A2 Fauci, Anthony S. A2 Kasper, Dennis L. A2 Hauser, Stephen L. A2 Longo, Dan L. A2 Loscalzo, Joseph SR Print(0) ID 1160017759 T1 Heritable Disorders of Connective Tissue T2 Harrison's Principles of Internal Medicine, 20e YR 2018 FD 2018 PB McGraw-Hill Education PP New York, NY SN 9781259644016 LK accessmedicine.mhmedical.com/content.aspx?aid=1160017759 RD 2024/03/29 AB Some of the most common conditions that are transmitted genetically in families are disorders that produce clinically obvious changes in the skeleton, skin, or other relatively acellular tissues that have been loosely defined as connective tissues. Because of their heritability, some of the disorders were recognized as potentially traceable to mutated genes soon after the principles of genetics were introduced into medicine by Garrod and others. About half a century later, McKusick emphasized the specificity of many of the diseases for selective connective tissues and suggested that they were probably caused by mutations in genes coding for the major proteins found in those tissues. In the last several decades, many of the disorders have been linked to mutations in several hundred different genes expressed in connective tissues. However, classifying the disorders on the basis of either their clinical presentations or the mutations causing them is continuing to present a challenge for both the clinician and the molecular biologist.