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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Peeling Skin Syndrome,Generalized (CHST8) Continuous shedding of upper epidermis Autosomal Recessive 19q13.11 Missense CHST8 229C>T Arg77Trp Amino Acid Substitution Cabral et al., 2012/2012
Peeling Skin Syndrome 3 (CHST8) continuous shedding of upper epidermis Autosomal Recessive 19q13.11 Missense CHST8 229C>T Arg77Trp Amino Acid Substitution Cabral et al., 2012/2012