Matches in DBpedia 2016-04 for { ?s ?p "Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects. Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome."@en }
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- Adermatoglyphia abstract "Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects. Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome.".
- Q356410 abstract "Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints. There are only four known extended families worldwide which are affected by this condition.Recently, the description of a case of a person from Switzerland lacking fingerprints as an isolated finding was published. The phenotype was mapped to chromosome 4q22. In the splice-site of a 3' exon of the gene for SMARCAD1-helicase, a point mutation was detected. It results in a shortened form of the skin-specific protein. The heterozygous mode of mutation suggests an autosomal dominant mode of inheritance.Other conditions can cause a lack of fingerprints, but unlike them, adermatoglyphia has no other side effects. Mutations in helicases are involved in other rare genetic diseases, for instance Werner syndrome.".