A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
Author:
Funder
Uludag University Scientific Research Unit
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Histology,Pathology and Forensic Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00441-019-03077-9.pdf
Reference32 articles.
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3. Bowden PE (2011) Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. J Invest Dermatol 131:561–564
4. Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM (2012) Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics 99:202–208
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1. CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy;Pediatric Dermatology;2024-07-12
2. Novel nonsense CAST mutation in two siblings with PLACK syndrome;International Journal of Dermatology;2023-06-30
3. A patient with PLACK syndrome with a novel splicing mutation in CAST: the evidence for a loss-of-function mechanism through mis-splicing;Clinical and Experimental Dermatology;2023-05-23
4. PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review;Clinical and Experimental Dermatology;2023-05-04
5. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene;Indian Journal of Dermatology, Venereology and Leprology;2023-05-03
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