1986
DOI: 10.1001/archderm.122.5.529
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Ichthyosis. Genetic heterogeneity, genodermatoses, and genetic counseling

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Cited by 7 publications
(12 citation statements)
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“…234,235 Affected individuals and/or their families should be offered genetic counseling to explain the nature of the disorder, its mode of inheritance, and the probability of future disease manifestations in the family. 1,3 They should be offered psychologic support and be informed of patient organizations or foundations (Table XIV). We would like to dedicate this classification to all our patients and their families, and thank all colleagues and friends, who are helping to achieve optimal clinical care for affected individuals and/or promote through their research our knowledge about the disorders of cornification.…”
Section: Resources For Clinicians and Patientsmentioning
confidence: 99%
See 1 more Smart Citation
“…234,235 Affected individuals and/or their families should be offered genetic counseling to explain the nature of the disorder, its mode of inheritance, and the probability of future disease manifestations in the family. 1,3 They should be offered psychologic support and be informed of patient organizations or foundations (Table XIV). We would like to dedicate this classification to all our patients and their families, and thank all colleagues and friends, who are helping to achieve optimal clinical care for affected individuals and/or promote through their research our knowledge about the disorders of cornification.…”
Section: Resources For Clinicians and Patientsmentioning
confidence: 99%
“…[1][2][3] During the past few years, much progress has been made in defining the molecular basis of these disorders, and in establishing genotype-phenotype correlations. [4][5][6][7][8][9][10][11] However, there is no universally accepted terminology and classification of the diseases considered under the umbrella term ''ichthyosis.''…”
mentioning
confidence: 99%
“…Hasta ebeveyn ve hasta kardeşler ise otozomal dominant geçişi göstermektedir. 2009 yılında klinik, histolojik, biyokimyasal ve genetik bulgulara göre yapılan yeni sınıflamaya göre "otozomal resesif konjenital iktiyoz" tanımı benimsendi ve en büyük değişiklik ise keratin mutasyonu ile giden iktiyozların sınıflandırılmasında oldu 5,6,7 .…”
Section: Gi Riflunclassified
“…Palmoplantar keratoderma eşlik edebilir. Hayatın ilk bir-iki yılından sonra stabilize olur, bazen pübertede kısmen gerileyebilir [1][2][3][4][5][6][7][8][9] .…”
Section: Eritrokeratoderma Variabilisunclassified
“…1A,B). Lamellar ichthyosis is usually an autosomal recessive disorder; a dominant pattern of inheritance has been described [12,13]. Lamellar ichthyosis is genetically heterogeneous; a number of different loci have been described so far.…”
Section: Ichthyosis Vulgaris (Mim %146700)mentioning
confidence: 99%