Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A

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Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A

机译：在KiaA0825中的新型双曲线畸变变种识别邮政左右左右型a

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摘要

Postaxial polydactyly (PAP) is characterized by development of extra digits, which mostly segregates in autosomal recessive pattern. The underlying genetic cause of recessive non-syndromic PAP type A has been associated with sequence variants in five different genes (ZNF141, IQCE, GLI1, FAM92A, KIAA0825).

机译：季轴多乳薄层（PAP）的特征在于额外数字的发展，主要是常染色体隐性图案中的偏离。隐性非综合征PAP类型A的潜在遗传原因已与五种不同基因中的序列变体相关联（ZNF141，IQCE，GLI1，FAM92A，KIAA0825）。

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《Genomics》 |2020年第4期|共5页
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正文语种 eng
中图分类医学遗传学;
关键词
Post-axial polydactyly type A; Limb anomaly; KIAA0825; Sanger sequencing; Novel missense variant;

机译：后轴上多乳淀粉型A;肢体异常;KiaA0825;Sanger测序;新的麦克信变种;

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专利

1. Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A [J] . Genomics . 2020,第4期

机译：在KiaA0825中的新型双曲线畸变变种识别邮政左右左右型a
2. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly [J] . Ullah Irfan, Kakar Naseebullah, Schrauwen Isabelle, Human Genetics . 2019,第6期

机译：Kiaa0825的变体底部常染色体隐性季度多透明度
3. Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly [J] . Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Molecular Genetics & Genomic Medicine . 2019,第7期

机译：Exome测序显示GLI3转录激活剂2结构域内的新功能致功能变体下潜突出的季轴分散
4. A Multi-Model Based Approach for Driver Missense Identification [C] . Ahmed Soliman, Mei-Ling Shyu 2018 IEEE 19th International Conference on Information Reuse and Integration for Data Science . 2018

机译：一种基于多模型的驾驶员导弹识别方法
5. Identification and characterization of biallelically cis-silenced genes by trans-complementation. [D] . Bugarija, Branimir. 2009

机译：通过反式互补对双烯丙基顺式沉默基因进行鉴定和表征。
6. Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly [O] . Muhammad Umair, Naveed Wasif, Alia M. Albalawi, 2019

机译：外显子组测序揭示了GLI3转录激活子2域中的一个新的功能丧失变异体是非综合征性后轴多聚体的基础
7. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly [O] . Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, 2019

机译：Kiaa0825中的变种底部常染色体隐性季度多透明度

Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A

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