伴有智力发育迟缓、感音神经性听力损失和巨头畸形的X连锁隐性肾炎。
X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly.
作者信息
Lane W, Robson M, Lowry R B, Leung A K
机构信息
Children's Hospital, Greenville Hospital System, South Carolina 29605-4253.
出版信息
Clin Genet. 1994 Jun;45(6):314-7. doi: 10.1111/j.1399-0004.1994.tb04039.x.
Abstract
A family with hereditary nephritis, sensorineural hearing loss, macrocephaly, and mental retardation is reported. X-linked recessive inheritance was suggested by the presence of two affected brothers and a maternal uncle. This association may be a previously unreported variant of Alport's syndrome.
摘要
报道了一个患有遗传性肾炎、感音神经性听力损失、巨头畸形和智力迟钝的家族。两个患病兄弟和一个舅舅的存在提示为X连锁隐性遗传。这种关联可能是Alport综合征一种此前未报道的变异型。
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