Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.

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The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.

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Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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Novel mutations c.28G>T (p.Ala ...... recessive microcephaly type 2.

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Novel mutations c.28G>T

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Novel mutations c.28G>T (p.Ala ...... recessive microcephaly type 2.

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Novel mutations c.28G>T

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Novel mutations c.28G>T (p.Ala ...... recessive microcephaly type 2.

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Novel mutations c.28G>T

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Novel mutations c.28G>T (p.Ala ...... recessive microcephaly type 2.

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Chao Wu

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Dongna Chen

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Hao Zeng

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Hui Huang

http://www.w3.org/2001/XMLSchema#string

Huishuang Chen

http://www.w3.org/2001/XMLSchema#string

Jianlian Deng

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Jing Wu

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Santasree Banerjee

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Weiping Deng

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Xunhua Li

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P2860

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure.

Clustal W and Clustal X version 2.0

A method and server for predicting damaging missense mutations

MutationTaster evaluates disease-causing potential of sequence alterations

Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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10.18632/ONCOTARGET.13279

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English

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microcephaly

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Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.

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P2860

P2860

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.

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P2860

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P1433

P1476

P2093

P2860

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P932