FOXL2 mutations in Indian families with blepharophimosisa€“ptosisa€“epicanthus inversus syndrome

Elfride De Baere; Guruswamy Neethirajan; Jethani Jitendra; Jeyabalan Nallathambi; Kim Usha; Seriasamy Sundaresan1

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FOXL2 mutations in Indian families with blepharophimosisa€“ptosisa€“epicanthus inversus syndrome

机译：印度家庭患有睑缘上皮病，翼状e肉，逆戟鱼综合症的FOXL2突变

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来源
《Journal of genetics》 |2007年第2期|共页
作者
Elfride De Baere; Guruswamy Neethirajan; Jethani Jitendra; Jeyabalan Nallathambi; Kim Usha; Seriasamy Sundaresan1;
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中图分类遗传学;
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1. De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosisa??Ptosisa??Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome: [J] . Anand Ramineni, David Coman Child Neurology Open . 2016,第2期

机译：De Novo 3q22.3q24微缺失在患有支原体病，Ptosisa，Epicanthus逆综合征，Dandy-Walker畸形和威斯康星综合症的患者中：
2. FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome [J] . Jeyabalan Nallathambi, Guruswamy Neethirajan, Kim Usha, Journal of Genetics . 2007,第2期

机译：印度家庭患有睑缘上睑下垂-上睑下垂-倒影综合征的FOXL2突变
3. FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome [J] . Jeyabalan Nallathambi, Guruswamy Neethirajan, Kim Usha, Journal of genetics . 2007,第2期

机译：印度家庭的Foxl2突变，具有睑缩失倚-ptosis-epicanthus inversus综合征
4. PHENOTYPICAL OVERLAPPING OF SICK SINUS ANDBRUGADA SYNDROMES IN A FAMILY WITH A NOVELSCN5A MUTATION [C] . FUMIKO YANAGISAWA, YUKEIHIGASHI, HIS A SHIMOJIM International Congress on Electrocardiology . 2005

机译：带有小型突变的家庭中病窦南邦司综合征的表型重叠
5. Marfan Syndrome-Related Mutations Lead to Abnormal Trafficking of TGF-β Family Receptors [D] . Lin, Jing. 2019

机译：Marfan综合征相关的突变导致TGF-β家族受体的异常贩运
6. Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome [O] . Min Xue, Jie Zheng, Qing Zhou, 2015

机译：在两个中国患有睑缘上睑下垂-上睑下垂-倒影综合症的家庭中新的FOXL2突变
7. FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome [O] . Nallathambi Jeyabalan, Neethirajan Guruswamy, Usha Kim, 2007

机译：FOXL2突变在印度家庭中有睑裂病 - 上睑下垂 - 内ep赘皮综合征

FOXL2 mutations in Indian families with blepharophimosisa€“ptosisa€“epicanthus inversus syndrome

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