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CHST8
HGNC:15993 19q13.1 MIM.610190
Monday 6 February 2012
GALNAC-4-ST1; carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8
Pathology
mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM. Genomics. 2012 Jan 25. PMID: 22289416
- Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis.
References
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM. Genomics. 2012 Jan 25. PMID: 22289416