WHOLE

作品数：675被引量：1081H指数：13
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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 
Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
《World Journal of Clinical Cases》2023年第11期2412-2422,共11页Xin-Ru Zhang Hang Ren Fang Yao Yang Liu Chun-Li Song 
Supported by the Jilin Provincial Healthcare Talent Special Program,No.2019SCZT08.
BACKGROUND Dilated cardiomyopathy(DCM)is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction.The substantial genetic heterogeneity evident in patients wi...
关键词：Dilated cardiomyopathy Gene mutation Whole exomes sequencing Sanger sequencing ANK2p.F3067L Potentially pathogenic gene 
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 
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 
Refractory case of ulcerative colitis with idiopathic thrombocytopenic purpura successfully treated by Janus kinase inhibitor tofacitinib:A case report被引量：1
《World Journal of Clinical Cases》2020年第24期6389-6395,共7页Yoriaki Komeda Toshiharu Sakurai Arito Hashimoto Tomoyuki Nagai Satoru Hagiwara Masatoshi Kudo Kazuko Sakai Kazuto Nishio Yasuyoshi Morita Itaru Matsumura 
Supported by JSPS KAKENHI, No.17K09396, No. 17H06404, and No.20K08368.
BACKGROUND Concomitant ulcerative colitis (UC) and idiopathic thrombocytopenic purpura(ITP) is a rare phenomenon. The management of UC with ITP can be challenging,since a decreased platelet count augments UC.CASE SUMM...
关键词：Ulcerative colitis Idiopathic thrombocytopenic purpura Tofacitinib Whole transcriptome analysis Case report Predictive biomarker 
Successful multidisciplinary clinical approach and molecular characterization by whole transcriptome sequencing of a cardiac myxofibrosarcoma: A case report被引量：3
《World Journal of Clinical Cases》2019年第19期3018-3026,共9页Maristella Saponara Valentina Indio Carmine Pizzi Elena-Daniela Serban Milena Urbini Annalisa Astolfi Pasquale Paolisso Sofia Martin Suarez Margherita Nannini Davide Pacini Valentina Agostini Ornella Leone Valentina Ambrosini Giuseppe Tarantino Stefano Fanti Fabio Niro Francesco Buia Domenico Attinà Maria Abbondanza Pantaleo 
BACKGROUND Cardiac tumors are rare and complex entities.Surgery represents the cornerstone of therapy,while the role of adjuvant treatment remains unclear and,in case of relapse or metastatic disease,the prognosis is ...
关键词：CARDIAC SARCOMA MYXOFIBROSARCOMA WHOLE transcriptome sequencing Doxorubicin GEMCITABINE Case report 
Recurrent acute liver failure associated with novel SCYL1 mutation:A case report被引量：2
《World Journal of Clinical Cases》2019年第4期494-499,共6页Jia-Qi Li Jing-Yu Gong A S Knisely Mei-Hong Zhang Jian-She Wang 
the National Natural Science Foundation of China,No.81570468
BACKGROUND Pediatric recurrent acute liver failure(RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside;intermittent exposure to toxins, as with ingestions; and ...
关键词：SCYL1 RECURRENT ACUTE liver failure Whole-exome SEQUENCING Case report 
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