Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome.
作者信息
Schworm H D, Jedele K B, Holinski E, Hörtnagel K, Rudolph G, Boergen K P, Kampik A, Meitinger T
机构信息
Augenklinik, Ludwig-Maximilians-Universität München, Germany.
出版信息
Clin Genet. 1996 Nov;50(5):393-7. doi: 10.1111/j.1399-0004.1996.tb02394.x.
Abstract
The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by linear nevus sebaceous and ocular and neurologic abnormalities, is a sporadic condition without known familial cases or etiology. We report the occurrence of SFM in only one of two monozygotic (MZ) twins. After considering a variety of possible causative mechanisms, we suggest that a postzygotic dominant lethal mutation in mosaic form may best explain SFM and the discordancy for SFM in these MZ twins.
摘要
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