Clinical and genetic characteristics of patients with Doose syndrome
نویسندگان
چکیده
منابع مشابه
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome
BACKGROUND Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian popula...
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ژورنال
عنوان ژورنال: Epilepsia Open
سال: 2020
ISSN: 2470-9239,2470-9239
DOI: 10.1002/epi4.12417