Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis-Reference-Cited by-同舟云学术

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

Published:2016-10 Issue:10 Volume:136 Page:2095-2098
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Takeichi Takuya,Liu Lu,Abdul-Wahab Alya,McMillan James R.,Stone Kristina L.,Akiyama Masashi,Simpson Michael A.,Parsons Maddy,Mellerio Jemima E.,McGrath John A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference7 articles.

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3. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti;Choate;J Clin Invest,2015

4. Expanding the clinical and genetic spectrum of KRT1, KRT2 and KRT10 mutations in keratinopathic ichthyosis;Hotz;Acta Derm Venereol,2016

5. Keratins and skin disease;Knöbel;Cell Tissue Res,2015

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2. Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes;Biomedicines;2022-08-29

3. Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing;European Journal of Dermatology;2021-04

4. A Novel Microduplication Spanning Exons 8–16 of ATP2C1 That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey–Hailey Disease;Frontiers in Medicine;2020-09-04

5. Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma;Journal of Dermatological Science;2020-02