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Genodermatoses

Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated famili...

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Detalles Bibliográficos
Autores principales: Babu, N. Aravindha, Rajesh, E., Krupaa, Jayasri, Gnananandar, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439671/
https://www.ncbi.nlm.nih.gov/pubmed/26015711
http://dx.doi.org/10.4103/0975-7406.155903
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author Babu, N. Aravindha
Rajesh, E.
Krupaa, Jayasri
Gnananandar, G.
author_facet Babu, N. Aravindha
Rajesh, E.
Krupaa, Jayasri
Gnananandar, G.
author_sort Babu, N. Aravindha
collection PubMed
description Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases.
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spelling pubmed-44396712015-05-26 Genodermatoses Babu, N. Aravindha Rajesh, E. Krupaa, Jayasri Gnananandar, G. J Pharm Bioallied Sci Dental Science - Review Article Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases. Medknow Publications & Media Pvt Ltd 2015-04 /pmc/articles/PMC4439671/ /pubmed/26015711 http://dx.doi.org/10.4103/0975-7406.155903 Text en Copyright: © Journal of Pharmacy and Bioallied Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Dental Science - Review Article
Babu, N. Aravindha
Rajesh, E.
Krupaa, Jayasri
Gnananandar, G.
Genodermatoses
title Genodermatoses
title_full Genodermatoses
title_fullStr Genodermatoses
title_full_unstemmed Genodermatoses
title_short Genodermatoses
title_sort genodermatoses
topic Dental Science - Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439671/
https://www.ncbi.nlm.nih.gov/pubmed/26015711
http://dx.doi.org/10.4103/0975-7406.155903
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