Riyadh Chromosome Breakage Syndrome: Mental Retardation With Depigmentation of the Skin and Hair
1992 ◽
Vol 7
(1_suppl)
◽
pp. S79-S82
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Keyword(s):
A 20-month-old infant with "silvery-blond" hair color, widespread confettilike depigmentation of the skin, and mental retardation was found to have, in lymphocytes and fibroblast cultures, increased spontaneous chromosome breaks and breaks induced by both mitomycin and γ-irradiation. The sister chromatid exchange frequency was normal. This child probably represents a new chromosome breakage syndrome. (J Child Neurol 1992;7(Suppl):S79-S82.)
1987 ◽
Vol 6
(11)
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pp. 637-642
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2000 ◽
Vol 470
(2)
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pp. 109-114
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1996 ◽
Vol 360
(1)
◽
pp. 29-35
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1986 ◽
Vol 163
(2)
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pp. 167-174
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1986 ◽
Vol 102
(6)
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pp. 1748-1750
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1987 ◽
Vol 26
(2)
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pp. 245-251
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