Ayme gripp syndrome in an Indian patient

Chaudhry Chakshu; Kaur Parminder; Srivastava Priyanka; Kaur Anupriya

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Ayme gripp syndrome in an Indian patient

机译：在印度患者中的AYME GRIPP综合症

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摘要

Ayme Gripp syndrome (OMIM#601088) is a multisystem disorder caused by heterozygous variation in the MAF (OMIM*177075). The typical phenotype comprises a tetralogy of congenital cataract, sensory neural hearing loss, a characteristic facial appearance along with neurodevelopment abnormalities. Exact prevalence estimates are unknown. Only 21 individuals representing 19 families have been reported in the literature till date. To the best of our knowledge, this is the first detailed case report of a boy with Ayme Gripp syndrome from our country. Although he had multiple typical features of the syndrome along with a known pathogenic variation in the MAF, cataract was not observed in him at the age of seven years.

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来源
《American journal of medical genetics, Part A》 |2021年第4期|共5页
作者
Chaudhry Chakshu; Kaur Parminder; Srivastava Priyanka; Kaur Anupriya;
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作者单位

Post Grad Inst Med Educ &

Res PGIMER Dept Pediat Genet &

Metab Unit Adv Pediat Ctr Chandigarh;

Post Grad Inst Med Educ &

Res PGIMER Dept Pediat Genet &

Metab Unit Adv Pediat Ctr Chandigarh;

Post Grad Inst Med Educ &

Res PGIMER Dept Pediat Genet &

Metab Unit Adv Pediat Ctr Chandigarh;

Post Grad Inst Med Educ &

Res PGIMER Dept Pediat Genet &

Metab Unit Adv Pediat Ctr Chandigarh;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
Arnold Chiari type 1 malformation; cataract; down syndrome like facies; dystrophic nails; Sensorineural hearing loss;

机译：Arnold Chiari型1畸形;白内障;唐氏综合征;如相;营养不良钉;感官听力损失;

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2. Effect of angiotensin converting enzyme gene I/D polymorphism in patients with metabolic syndrome in North Indian population [J] . Gaurav Mittal, Vibhanshu Gupta, Shahzad F Haque, 中华医学杂志（英文版） . 2011,第001期
3. THE FACIAL PHENOTYPE OF AYME-GRIPP SYNDROME IS RECOGNIZABLE BY NEXT GENERATION PHENOTYPING SOFTWARE [J] . Gripp K. W., Amudhavalli S. M., Hanson R., American journal of medical genetics, Part A . 2019,第4期

机译：Ayme-Gripp综合征的面部表型可通过下一代表型软件来识别
4. Maternally inherited MAF variant associated with variable expression of Ayme-Gripp syndrome [J] . Ebba Alkhunaizi, Robert K. Koenekoop, Christine Saint-Martin, American journal of medical genetics, Part A . 2019,第11期

机译：母体继承的MAF变体与Ayme-Gripp综合征的可变表达相关
5. Response to "Lateral Meningocele Syndrome and Hajdu-Cheney Syndrome: Different Disorders With Overlapping Phenotypes" by Gripp [J] . Kristiina Avela, Outi Makitie American journal of medical genetics, Part A . 2011,第7期

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8. Novel missense mutation in the bZIP transcription factor MAF associated with congenital cataract developmental delay seizures and hearing loss (Aymé-Gripp syndrome) [O] . Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, 2017

机译：bZIP转录因子MAF中的新的错义突变与先天性白内障发育迟缓癫痫发作和听力下降有关（Aymé-Gripp综合征）
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机译：bZIp转录因子maF中的新型错义突变，与先天性白内障，发育迟缓，癫痫发作和听力丧失相关（ayme-Gripp综合征）
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Ayme gripp syndrome in an Indian patient

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