Author:
Tsukahara Masato,Imaizumi Kiyoshi,Kawai Shinya,Kajii Tadashi
Subject
Genetics (clinical),Genetics
Reference13 articles.
1. Ehlers-Danlos syndrome (EDS), type IX: biochemical evidence for X-linkage;Blackston;(Abstract) Am J Hum Genet,1987
2. An X-linked form of cutis laxa due to deficiency of lysyl oxidase;Byers;Birth Defects,1976
3. X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity;Byers;N Engl J Med,1980
4. Occipital horn syndrome. Additional radiographic findings in two new cases;Herman;Pediatr Radiol,1992
5. Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder;Kuivaniemi;J Clin Invest,1982
Cited by
44 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Syndromes with Premature Ageing;Rook's Textbook of Dermatology;2024-02-20
2. Inherited Metabolic Diseases;Rook's Textbook of Dermatology;2024-02-20
3. Orthopaedic interventions in occipital horn syndrome: a rare case of mutation in ATP7A gene;Egyptian Journal of Medical Human Genetics;2022-02-23
4. Disorders of Copper, Zinc, and Selenium Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022
5. Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis;Advances in Experimental Medicine and Biology;2021