Clinical and chromosome studies of three patients with Smith-Magenis syndrome.
作者信息
de Rijk-van Andel J F, Catsman-Berrevoets C E, van Hemel J O, Hamers A J
机构信息
Department of Neurology, Westeinde Hospital, The Hague, The Netherlands.
出版信息
Dev Med Child Neurol. 1991 Apr;33(4):343-7. doi: 10.1111/j.1469-8749.1991.tb14885.x.
Abstract
The authors report three patients with Smith-Magenis syndrome; only 21 patients with this syndrome have been described previously in the literature. The syndrome is related to a deletion of chromosome 17p11 x 2, and differs from Miller-Dieker syndrome on clinical criteria and in that the latter is related to a deletion of 17p13 x 3.
摘要
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