| Literature DB >> 9007330 |
H D Schworm1, K B Jedele, E Holinski, K Hörtnagel, G Rudolph, K P Boergen, A Kampik, T Meitinger.
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.Entities:
Mesh：
Year: 1996 PMID： 9007330 DOI： 10.1111/j.1399-0004.1996.tb02394.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438