Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis-Reference-Cited by-同舟云学术

Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis

Published:2023-12-07 Issue:1 Volume:316 Page:
ISSN:1432-069X
Container-title:Archives of Dermatological Research
language:en
Short-container-title:Arch Dermatol Res

Author:

Chegini Mitra,Eslami Maryam,Motavaf Mahsa,Memarsadeghi Omid,Hoseini Azadeh,Torab Elnaz,Hoseininasab Fatemeh,Amiri Hosna,Ramandi Somayeh,Mostofinezhad Niusha,Keivani Fatane,Ghaffari Saeed Reza,Rafati Maryam

Publisher

Springer Science and Business Media LLC

Subject

Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00403-023-02775-3.pdf

Reference5 articles.

1. Chiu FP-C, Doolan BJ, McGrath JA, Onoufriadis A (2021) A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics. Br J Dermatol 184(4):606–616. https://doi.org/10.1111/bjd.19384

2. Joosten MDW, Clabbers JMK, Jonca N, Mazereeuw-Hautier J, Gostyński AH (2022) New developments in the molecular treatment of ichthyosis: review of the literature. Orphanet J Rare Dis 17(1):269. https://doi.org/10.1186/s13023-022-02430-6

3. Saadat M, Zarghami M (2017) Consanguineous marriages among Iranian Mandaeans living in South-West Iran. J Biosoc Sci 50(4):451–456. https://doi.org/10.1017/S0021932017000207

4. Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L (2018) Whole-exome sequencing for diagnosis of hereditary ichthyosis. J Eur Acad Dermatol Venereol 32(6):1022–1027. https://doi.org/10.1111/jdv.14870

5. Vahlquist A, Fischer J, Törmä H (2018) Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment. Am J Clin Dermatol 19(1):51–66. https://doi.org/10.1007/s40257-017-0313-x