Cargando…
Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()()
Autores principales: | , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Dermatologia
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335851/ https://www.ncbi.nlm.nih.gov/pubmed/32482547 http://dx.doi.org/10.1016/j.abd.2019.10.006 |
_version_ | 1783554203166179328 |
---|---|
author | Zhang, Xinyue Geng, Songmei Zheng, Yi |
author_facet | Zhang, Xinyue Geng, Songmei Zheng, Yi |
author_sort | Zhang, Xinyue |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-7335851 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-73358512020-07-07 Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()() Zhang, Xinyue Geng, Songmei Zheng, Yi An Bras Dermatol Case Letter Sociedade Brasileira de Dermatologia 2020 2020-05-14 /pmc/articles/PMC7335851/ /pubmed/32482547 http://dx.doi.org/10.1016/j.abd.2019.10.006 Text en © 2020 Sociedade Brasileira de Dermatologia. Published by Elsevier España, S.L.U. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Letter Zhang, Xinyue Geng, Songmei Zheng, Yi Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()() |
title | Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()() |
title_full | Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()() |
title_fullStr | Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()() |
title_full_unstemmed | Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()() |
title_short | Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene()() |
title_sort | rare presentation of rothmund-thomson syndrome with novel compound heterozygous mutations of the recql4 gene()() |
topic | Case Letter |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335851/ https://www.ncbi.nlm.nih.gov/pubmed/32482547 http://dx.doi.org/10.1016/j.abd.2019.10.006 |
work_keys_str_mv | AT zhangxinyue rarepresentationofrothmundthomsonsyndromewithnovelcompoundheterozygousmutationsoftherecql4gene AT gengsongmei rarepresentationofrothmundthomsonsyndromewithnovelcompoundheterozygousmutationsoftherecql4gene AT zhengyi rarepresentationofrothmundthomsonsyndromewithnovelcompoundheterozygousmutationsoftherecql4gene |