A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Genes & Diseases ◽

10.1016/j.gendis.2020.01.009 ◽

2020 ◽

Author(s):

Yu Zhang ◽

Guoyong Zhang ◽

Wenhui Chen ◽

Zheng Pu ◽

Lu Song ◽

...

Keyword(s):

Literature Review ◽

Chinese Patient

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Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review

International Journal of Developmental Neuroscience ◽

10.1002/jdn.10154 ◽

2021 ◽

Author(s):

Arman Zhao ◽

Dandan Shu ◽

Daxue Zhang ◽

Bin Yang ◽

Liyi Hong ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Chinese Patient

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Hydroa vacciniforme-like lymphoproliferative disorder in an elderly Chinese patient and a literature review of adult cases

International Journal of Dermatology ◽

10.1111/ijd.14050 ◽

2018 ◽

Vol 57 (11) ◽

pp. 1283-1292 ◽

Author(s):

Valencia Long ◽

Michelle W. Liang ◽

Suat Hoon Tan

Keyword(s):

Literature Review ◽

Lymphoproliferative Disorder ◽

Chinese Patient ◽

Elderly Chinese ◽

Hydroa Vacciniforme

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The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.62646 ◽

2022 ◽

Author(s):

Stephanie Ho ◽

Ho‐Ming Luk ◽

Ivan F. M. Lo

Keyword(s):

Case Report ◽

Literature Review ◽

Chinese Patient ◽

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Sporadic case of eruptive lentiginosis caused by Thr468Met missense mutation in the PTPN11 gene in a Han Chinese patient: first report and systematic literature review

Clinical and Experimental Dermatology ◽

10.1111/ced.14644 ◽

2021 ◽

Author(s):

Z. Wang ◽

L. Sun ◽

X. Fu ◽

Z. Wang ◽

G. Yu ◽

...

Keyword(s):

Literature Review ◽

Missense Mutation ◽

Systematic Literature Review ◽

Sporadic Case ◽

Chinese Patient ◽

Han Chinese ◽

Ptpn11 Gene ◽

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A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1686 ◽

2021 ◽

Author(s):

Hui Yu ◽

Xun He ◽

Xiangqin Liu ◽

Houbin Zhang ◽

Zhu Shen ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Missense Variant ◽

Chinese Patient ◽

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Rhodotorula minutaas onychomycosis agent in a Chinese patient: first report and literature review

Mycoses ◽

10.1111/myc.12143 ◽

2013 ◽

Vol 57 (3) ◽

pp. 191-195 ◽

Author(s):

Jie Zhou ◽

Min Chen ◽

Hongduo Chen ◽

Weihua Pan ◽

Wanqing Liao

Keyword(s):

Literature Review ◽

Chinese Patient ◽

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Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review

Clinica Chimica Acta ◽

10.1016/j.cca.2021.08.030 ◽

2021 ◽

Vol 523 ◽

pp. 10-18

Author(s):

Arman Zhao ◽

Rui Zhou ◽

Qin Gu ◽

Min Liu ◽

Bingbing Zhang ◽

...

Keyword(s):

Literature Review ◽

Exome Sequencing ◽

Developmental Delay ◽

Early Onset ◽

De Novo ◽

Missense Variant ◽

Chinese Patient

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Portal venous gas and thrombosis in a Chinese patient with fulminant Crohn’s colitis: A case report with literature review

World Journal of Gastroenterology ◽

10.3748/wjg.v12.i34.5582 ◽

2006 ◽

Vol 12 (34) ◽

pp. 5582 ◽

Author(s):

Simon Siu-Man Ng

Keyword(s):

Case Report ◽

Literature Review ◽

Chinese Patient ◽

Crohn’S Colitis ◽

Portal Venous Gas ◽

Crohn's Colitis

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First Chinese patient with mental retardation‑40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review

Experimental and Therapeutic Medicine ◽

10.3892/etm.2021.10339 ◽

2021 ◽

Vol 22 (2) ◽

Author(s):

Yan Dong ◽

Xiaoyi Shi ◽

Kaixian Du ◽

Ruijuan Xu ◽

Tianming Jia ◽

...

Keyword(s):

Mental Retardation ◽

Case Report ◽

Literature Review ◽

Frameshift Mutation ◽

De Novo ◽

Chinese Patient

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CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation

Pediatric Dermatology ◽

10.1111/pde.12701 ◽

2015 ◽

Vol 32 (6) ◽

pp. e277-e282 ◽

Author(s):

Xiang-bin Mi ◽

Miao-xuan Luo ◽

Lin-lang Guo ◽

Tang-de Zhang ◽

Xian-wen Qiu

Keyword(s):

Case Report ◽

Literature Review ◽

Gene Mutation ◽

Protein Gene ◽

Chinese Patient ◽

Child Syndrome ◽

Steroid Dehydrogenase

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