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作品数：161被引量：414H指数：11
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Townes–Brocks syndrome with adult renal impairment in a Chinese family:A case report
《World Journal of Clinical Cases》2023年第23期5567-5572,共6页Jing Wu Jun Zhang Tang-Li Xiao Ting He 
Supported by Joint Medical Project of Science and Technology Commission of Chongqing,No.2021MSXM164.
BACKGROUND Townes–Brocks syndrome(TBS)is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus,dysplastic ears,and thumb malformations.Heterozygous variants of SALL1 are responsible ...
关键词：Townes-Brocks syndrome SALL1 Renal impairment PEDIGREE Whole exon sequencing Case report 
Identification of 1q21.1 microduplication in a family:A case report被引量：1
《World Journal of Clinical Cases》2023年第4期874-882,共9页Ting-Ting Huang Hai-Feng Xu Shang-Yu Wang Wen-Xin Lin Yie-Hen Tung Kaleem Ullah Khan Hui-HuiZhang Hu Guo Guo Zheng Gang Zhang 
BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare ...
关键词：1q21.1 microduplication syndrome EPILEPSY Copy number variation FAMILIAL Whole exon sequencing Congenital developmental disorders Case report 
CCNO mutation as a cause of primary ciliary dyskinesia:A case report被引量：1
《World Journal of Clinical Cases》2022年第25期9148-9155,共8页Yun-Yan Zhang Yan Lou Han Yan Hao Tang 
BACKGROUND Primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse condition.According to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly...
关键词：Primary ciliary immobility disorder CCNO gene Whole exon gene sequencing Clinical profiles Review of literature Case report 
Efficacy of EGFR-TKI sequential therapy in patients with EGFR exon 19 insertion-positive non-small-cell lung cancer:A case report
《World Journal of Clinical Cases》2022年第6期1883-1888,共6页Bin-Bin Shan Yuan Li Chang Zhao Xiao-Qin An Quan-Mao Zhang 
BACKGROUND Insertions in exon 19 in the epidermal growth factor receptor gene(EGFR)is a rarely seen mutation in non-small cell lung cancer.These patients have been effectively treated with sequential EGFR tyrosine kin...
关键词：Non-small cell lung cancer Next-generation sequencing EGFR exon 19 insertion AFATINIB Case report 
Novelα-galactosidase A gene mutation in a Chinese Fabry disease family:A case report
《World Journal of Clinical Cases》2022年第3期1067-1076,共10页An-Yi Fu Qi-Zhi Jin Ya-Xun Sun 
Supported by Key Research and Development Program of Zhejiang Province,No.2019C03022.
BACKGROUND Fabry disease(FD)is a rare X-linked lysosomal storage disease caused by a deficiency of the enzymeα-galactosidase A.CASE SUMMARY Herein,we analyzed a four-generation Chinese family.The proband is a 57-year...
关键词：Lysosomal storage disease Enzyme activity Fabry disease Frameshift deletion Whole exon sequencing Case report 
Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report
《World Journal of Clinical Cases》2021年第19期5226-5231,共6页Mi Yang Ru-Xin Xing 
the Medical and Health Science and Technology Program of Zhejiang Province,No.2018273034.
BACKGROUND Congenital muscular dystrophy(CMD)is a clinically and genetically heterogeneous group of inherited muscle disorders.Mutations in the CRPPA gene(encoding CDPLribitol pyrophosphorylase A)are recognized as cau...
关键词：Congenital muscular dystrophy CRPPA MUTATION Dystroglycanopathy Case report 
Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion:A case report被引量：2
《World Journal of Clinical Cases》2021年第23期6858-6866,共9页Shuang-Zhu Lin Xin-Yu Zhou Wan-Qi Wang Kai Jiang 
Supported by Natural Science Foundation of Jilin Province,No.20200201486JC.
BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested th...
关键词：Mental retardation Developmental retardation FOXP1 Genetic expression Case report 
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