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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
Papillon-Lefevre syndrome (PLS) palmoplantar keratoderma, psoriasiform,gingivitis Autosomal Recessive 11q14.2 Deletion CTSC 21delG Leu7Phefs*57 Frame shift mutation & PTC Kurban et al., 2010/2010
Papillon-Lefevre syndrome (PLS) palmoplantar keratoderma,psoriasiform,gingivitis Autosomal Recessive 11q14.2 Missense CTSC 815G>C Arg272Pro Amino Acid Substitution Kurban et al., 2009/2009
Papillon-Lefevre syndrome (PLS) palmoplantar keratoderma,psoriasiform,gingivitis Autosomal Recessive 11q14.2 Missense CTSC 1213C>A His405Asn Amino Acid Substitution de Haar et al., 2004/2004