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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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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. |
format | Online Article Text |
id | pubmed-4439671 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT babunaravindha genodermatoses AT rajeshe genodermatoses AT krupaajayasri genodermatoses AT gnananandarg genodermatoses |