A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.
暂无分享,去创建一个
[1] A. Wilkie,et al. A newly defined X linked mental retardation syndrome associated with alpha thalassaemia. , 1991, Journal of medical genetics.
[2] R. G. Holmes,et al. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. , 1986, American journal of medical genetics.
[3] Marinos C. Dalakas,et al. Muscle biopsy — a practical approach , 1986, The Ulster Medical Journal.
[4] J. Hanson,et al. Börjeson-Forssman-Lehmann syndrome: further delineation in five cases. , 1984, American journal of medical genetics.
[5] P. Casaer,et al. Early clinical signs in Coffin‐Lowry syndrome , 1984, Clinical genetics.
[6] A. Poznanski,et al. The hand in radiologic diagnosis: With gamuts and pattern profiles , 1984 .
[7] R. Kelley. Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. , 1983, American journal of medical genetics.
[8] J. Opitz,et al. Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family. , 1982, American journal of medical genetics.
[9] D. Hunt,et al. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? , 1981, The New England journal of medicine.
[10] B. Hall,et al. Prader-Willi syndrome , 1972 .
[11] D. W. Smith,et al. Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. , 1972, The Journal of pediatrics.
[12] L. Kuhns,et al. Dysharmonic maturation of the hand in the congenital malformation syndromes. , 1971, American journal of physical anthropology.
[13] M. Borjeson,et al. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. , 2009, Acta medica Scandinavica.
[14] A. Prader. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. , 1956 .