Timár L, Czeizel A E, Koszó P
Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community Control of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary.
Clin Genet. 1993 Aug;44(2):76-8. doi: 10.1111/j.1399-0004.1993.tb03850.x.
The second case of Shokeir syndrome (congenital total permanent alopecia, psychomotor epilepsy, mental retardation and pyorrhea) is described in a Hungarian boy. This syndrome was associated with a giant pigmented nevus in this case.
本文描述了一名匈牙利男孩患绍凯尔综合征(先天性完全性永久性脱发、精神运动性癫痫、智力迟钝和脓溢)的第二例病例。该综合征在本例中与巨大色素痣相关。