Vertebra Plana (Enfermedad de Calve): Relato de dos casos
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چکیده
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Síndrome de Kindler - relato de dois casos
Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosens...
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ژورنال
عنوان ژورنال: Revista chilena de pediatría
سال: 1955
ISSN: 0370-4106
DOI: 10.4067/s0370-41061955000400004