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-Reference-Cited by-同舟云学术

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

Published:2016-11-10 Issue:48 Volume:7 Page:78363-78371
ISSN:1949-2553
Container-title:Oncotarget
language:en
Short-container-title:Oncotarget

Author:

Banerjee Santasree¹,Chen Huishuang¹,Huang Hui¹,Wu Jing¹,Yang Zhiyun²,Deng Weiping³,Chen Dongna¹,Deng Jianlian¹,Su Yan¹,Li Yang¹,Wu Chao⁴,Wang Ye⁵,Zeng Hao⁵,Wang Yiming⁶¹,Li Xunhua⁴

Affiliation:

1. BGI-Shenzhen, Shenzhen, China

2. Department of Medical Imaging, 1st affiliated hospital, Sun Yat-sen University, Guangzhou, PR China

3. Department of Dermatology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, PR China

4. Department of Neurology, 1st affiliated hospital, Sun Yat-sen University, Guangzhou, PR China

5. Department of Medical Genetics, Center for Genome Research, Sun Yat-sen University, Guangzhou, PR China

6. Xinhua College, Sun Yat-sen university, Guangzhou, PR China

Publisher

Impact Journals, LLC

Subject

Oncology

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1. Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript;Frontiers in Neurology;2024-03-21

2. Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum;Journal of Contemporary Medical Sciences;2022-02-26

3. Autosomal Recessive Primary Microcephaly: Not Just a Small Brain;Frontiers in Cell and Developmental Biology;2022-01-17

4. Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly;Irish Journal of Medical Science (1971 -);2022-01-15

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