Pediatric presentation of Marinesco-Sjogren syndrome with a novel SIL1 mutation in two siblings

Bayram A. Kacar; Bayram N.; Cirak S.; Doganay S.; Gumus H.; Per H.

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Pediatric presentation of Marinesco-Sjogren syndrome with a novel SIL1 mutation in two siblings

机译：在两个兄弟姐妹中出现新型SIL1突变的Marinesco-Sjogren综合征的儿科表现

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《Neuromuscular disorders: NMD》 |2016年第2期|共1页
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Bayram A. Kacar; Bayram N.; Cirak S.; Doganay S.; Gumus H.; Per H.;
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中图分类神经病学;
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1. Pediatric presentation of Marinesco-Sjogren syndrome with a novel SIL1 mutation in two siblings [J] . Bayram A. Kacar, Bayram N., Cirak S., Neuromuscular disorders: NMD . 2016,第Suppla2期

机译：在两个兄弟姐妹中出现新型SIL1突变的Marinesco-Sjogren综合征的儿科表现
2. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjogren syndrome. [J] . Anttonen AK, Siintola E, Tranebjaerg L, European journal of human genetics: EJHG . 2008,第8期

机译：Marinesco-Sjogren综合征中的新型SIL1突变和功能候选基因的排除。
3. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. [J] . Senderek J, Krieger M, Stendel C, Nature Genetics . 2005,第12期

机译：SIL1的突变会引起Marinesco-Sjogren综合征，这是一种患有白内障和肌病的小脑共济失调。
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. Identification of a mutation in COL4A5 causative for X-linked Alport syndrome in the domestic dog and analysis of gene expression in the kidneys of affected and nonaffected siblings. [D] . Cox, Melissa Luanne. 2003

机译：鉴定引起家犬X连锁Alport综合征的COL4A5突变，并分析患病和未患病兄弟姐妹肾脏中的基因表达。
6. Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome [O] . Christian Gatz, Denisa Hathazi, Ute Münchberg, 2019

机译：与Marinesco-Sjögren综合征相关的SIL1突变的细胞致病性标记的鉴定。
7. Marinesco-Sjogren Syndrome and SIL1 Mutations [O] . J Gordon Millichap, John J Millichap 2014

机译：Marinesco-sjogren综合征和Sil1突变

Pediatric presentation of Marinesco-Sjogren syndrome with a novel SIL1 mutation in two siblings

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