Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese-Reference-Cited by-同舟云学术

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Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese

Published:2020-02-09 Issue:5 Volume:97 Page:770-778
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Cheng Ruhong¹²,Liang Jianying¹²,Li Yue¹²,Zhang Jia¹²,Ni Cheng¹²,Yu Hong¹²,Kong Xiangsheng³,Li Ming¹²^ORCID,Yao Zhirong¹²^ORCID

Affiliation:

1. Department of DermatologyXinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine Shanghai China

2. Institute of DermatologyShanghai Jiao Tong University School of Medicine Shanghai China

3. School of Life SciencesFudan University Shanghai China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13704

Reference15 articles.

1. Inherited ichthyosis: Non-syndromic forms

2. Whole-exome sequencing for diagnosis of hereditary ichthyosis

3. Predictive phenotyping of inherited ichthyosis by next‐generation DNA sequencing

4. Withdrawn: Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis

5. Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation

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1. Genetic testing and new variants in diagnosis of congenital ichthyoses;Molecular Genetics & Genomic Medicine;2024-08

2. Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients;Dermatology;2024

3. Next-generation sequencing in dermatology;Frontiers in Medicine;2023-09-29

4. Clinical and molecular diagnosis of genodermatoses: Review and perspectives;Journal of the European Academy of Dermatology and Venereology;2022-12-11

5. Ichthyosis vulgaris: An updated review;Skin Health and Disease;2022-11-25

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