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A multistep approach to the diagnosis of rare genodermatoses

  • Published:2020-07 Issue:4 Volume:38 Page:399-407
  • ISSN:0738-081X
  • Container-title:Clinics in Dermatology
  • language:en
  • Short-container-title:Clinics in Dermatology

Author:

Aşkın Özge,Engin Burhan,Gencebay Güllü,Tüzün Yalçın

Publisher

Elsevier BV

Subject

Dermatology

Reference40 articles.

1. Phenotypic and genotypic analyses of genetic skin disease through the Online Mendelian Inheritance in Man (OMIM) database;Feramisco;J Invest Dermatol,2009

2. Practice and educational gaps in genodermatoses;Schaffer;Dermatol Clin,2016

3. Next-generation diagnostics for genodermatoses;Cho;J Invest Dermatol,2012

4. A multistep approach to the diagnosis of rare genodermatoses;Tantcheva-Poór;J Dtsch Dermatol Ges,2016

5. Inherited disorders of cornification;Oji,2016

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1. Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders;BMC Medical Genomics;2023-08-21

2. Importancia del uso de la genómica en el diagnóstico precoz de la esclerosis tuberosa, reporte de caso;Revista de la Asociación Colombiana de Ciencias Biológicas;2022-12-14

3. Clinical and molecular diagnosis of genodermatoses: Review and perspectives;Journal of the European Academy of Dermatology and Venereology;2022-12-11

4. Präzisionsmedizinischer Ansatz bei einem seltenen Fall von autosomal rezessiver kongenitaler Ichthyose;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2022-12

5. Precision medicine approach in a rare case of autosomal recessive congenital ichthyosis;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2022-11-28
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