A neuropathological study of early onset cockayne syndrome with chromosomal anomaly 47XXX
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Cockayne, 1936, Dwarfism with retinal atrophy and deafness, Arch Dis Child, 11, 1, 10.1136/adc.11.61.1
Sugarman, 1977, Cockayne syndrome: clinical study of two patients and neuropathologies findings in one, Gin Pediatr, 16, 225
Windmiller, 1963, Cockayne's syndrome with chromosomal analysis, Am J Dis Child, 105, 204
Schmickel, 1977, Cockayne syndrome: a cellular sensitivity to ultraviolet light, Pediatrics, 60, 135, 10.1542/peds.60.2.135
Sugita, 1986, UV or X-ray sensitivity of cells from the Cockayne syndrome (in Japanese), No to Hattatsu (Tokyo), 18, 286
Patton, 1989, Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies, J Med Genet, 26, 154, 10.1136/jmg.26.3.154
Dekaban, 1978, Changes in brain weights during the span of human life: relation of brain weights to body heights and body weights, Ann Neurol, 4, 345, 10.1002/ana.410040410
Ohno, 1966, Renal lesions in Cockayne's syndrome, TohokuJ Exp Med (Sendai), 89, 151, 10.1620/tjem.89.151
Sato, 1988, Renal lesions in Cockayne's syndrome, Clin Nephron, 29, 206
Moossy, 1967, The neuropathology of Cockayne's syndrome, J Neuropathol Exp Neurol, 26, 654, 10.1097/00005072-196710000-00010
Rowlatt, 1969, Cockayne's syndrome. Report of a case with necropsy findings, Acta neuropathol (Berl), 14, 52, 10.1007/BF00687702
Crome, 1971, Cockayne's syndrome: case report, J Neurol Neurosurg Psychiatry, 34, 171, 10.1136/jnnp.34.2.171
Soffer, 1979, Cockayne syndrome: unusual neuropathological findings and review of the literature, Ann Neurol, 6, 340, 10.1002/ana.410060407
Leech, 1985, Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings, J Neuropathol Exp Neurol, 44, 507, 10.1097/00005072-198509000-00006
Fujita, 1972, A survey of sex chromosome anomalies among normal and mental defectives, Jpn J Hum Genet (Tokyo), 16, 198
Tennes, 1975, A developmental study of girls with trisomy X, Am J Hum Genet, 27, 71
Pena, 1974, Autosomal recessive cerebro-oculo-facial-skeletal (COFS) syndrome, Gin Genet, 5, 285
Pena, 1978, COFS syndrome revisited, Birth Defects, XIV, 205