Cargando…
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7701006/ https://www.ncbi.nlm.nih.gov/pubmed/33294546 http://dx.doi.org/10.1016/j.jdcr.2020.09.025 |
_version_ | 1783616401493196800 |
---|---|
author | Dokic, Yelena Albahrani, Yasser Phung, Thuy Patel, Kalyani de Guzman, Marietta Hertel, Paula Hunt, Raegan |
author_facet | Dokic, Yelena Albahrani, Yasser Phung, Thuy Patel, Kalyani de Guzman, Marietta Hertel, Paula Hunt, Raegan |
author_sort | Dokic, Yelena |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-7701006 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-77010062020-12-07 Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B Dokic, Yelena Albahrani, Yasser Phung, Thuy Patel, Kalyani de Guzman, Marietta Hertel, Paula Hunt, Raegan JAAD Case Rep Case Report Elsevier 2020-10-10 /pmc/articles/PMC7701006/ /pubmed/33294546 http://dx.doi.org/10.1016/j.jdcr.2020.09.025 Text en © 2020 by the American Academy of Dermatology, Inc. Published by Elsevier, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Dokic, Yelena Albahrani, Yasser Phung, Thuy Patel, Kalyani de Guzman, Marietta Hertel, Paula Hunt, Raegan Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B |
title | Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B |
title_full | Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B |
title_fullStr | Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B |
title_full_unstemmed | Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B |
title_short | Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B |
title_sort | hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: hepatic disease in a child with a novel pathogenic variant of fam111b |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7701006/ https://www.ncbi.nlm.nih.gov/pubmed/33294546 http://dx.doi.org/10.1016/j.jdcr.2020.09.025 |
work_keys_str_mv | AT dokicyelena hereditaryfibrosingpoikilodermawithtendoncontracturesmyopathyandpulmonaryfibrosishepaticdiseaseinachildwithanovelpathogenicvariantoffam111b AT albahraniyasser hereditaryfibrosingpoikilodermawithtendoncontracturesmyopathyandpulmonaryfibrosishepaticdiseaseinachildwithanovelpathogenicvariantoffam111b AT phungthuy hereditaryfibrosingpoikilodermawithtendoncontracturesmyopathyandpulmonaryfibrosishepaticdiseaseinachildwithanovelpathogenicvariantoffam111b AT patelkalyani hereditaryfibrosingpoikilodermawithtendoncontracturesmyopathyandpulmonaryfibrosishepaticdiseaseinachildwithanovelpathogenicvariantoffam111b AT deguzmanmarietta hereditaryfibrosingpoikilodermawithtendoncontracturesmyopathyandpulmonaryfibrosishepaticdiseaseinachildwithanovelpathogenicvariantoffam111b AT hertelpaula hereditaryfibrosingpoikilodermawithtendoncontracturesmyopathyandpulmonaryfibrosishepaticdiseaseinachildwithanovelpathogenicvariantoffam111b AT huntraegan hereditaryfibrosingpoikilodermawithtendoncontracturesmyopathyandpulmonaryfibrosishepaticdiseaseinachildwithanovelpathogenicvariantoffam111b |