Cargando…
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene
| Autores principales: | , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Fondazione Ferrata Storti
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543174/ https://www.ncbi.nlm.nih.gov/pubmed/37102609 http://dx.doi.org/10.3324/haematol.2022.282457 |
| _version_ | 1785114241640955904 |
|---|---|
| author | Rosato, Barbara Eleni Marra, Roberta Del Giudice, Federica Nostroso, Antonella Gobbi, Simona Bruschi, Barbara Coccia, Paola Monaco, Vittoria Monti, Maria Iolascon, Achille Andolfo, Immacolata Russo, Roberta |
| author_facet | Rosato, Barbara Eleni Marra, Roberta Del Giudice, Federica Nostroso, Antonella Gobbi, Simona Bruschi, Barbara Coccia, Paola Monaco, Vittoria Monti, Maria Iolascon, Achille Andolfo, Immacolata Russo, Roberta |
| author_sort | Rosato, Barbara Eleni |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-10543174 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Fondazione Ferrata Storti |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-105431742023-10-03 One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene Rosato, Barbara Eleni Marra, Roberta Del Giudice, Federica Nostroso, Antonella Gobbi, Simona Bruschi, Barbara Coccia, Paola Monaco, Vittoria Monti, Maria Iolascon, Achille Andolfo, Immacolata Russo, Roberta Haematologica Case Report & Case Series Fondazione Ferrata Storti 2023-04-27 /pmc/articles/PMC10543174/ /pubmed/37102609 http://dx.doi.org/10.3324/haematol.2022.282457 Text en Copyright© 2023 Ferrata Storti Foundation https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
| spellingShingle | Case Report & Case Series Rosato, Barbara Eleni Marra, Roberta Del Giudice, Federica Nostroso, Antonella Gobbi, Simona Bruschi, Barbara Coccia, Paola Monaco, Vittoria Monti, Maria Iolascon, Achille Andolfo, Immacolata Russo, Roberta One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene |
| title | One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene |
| title_full | One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene |
| title_fullStr | One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene |
| title_full_unstemmed | One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene |
| title_short | One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene |
| title_sort | one gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the epas1 gene |
| topic | Case Report & Case Series |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543174/ https://www.ncbi.nlm.nih.gov/pubmed/37102609 http://dx.doi.org/10.3324/haematol.2022.282457 |
| work_keys_str_mv | AT rosatobarbaraeleni onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT marraroberta onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT delgiudicefederica onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT nostrosoantonella onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT gobbisimona onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT bruschibarbara onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT cocciapaola onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT monacovittoria onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT montimaria onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT iolasconachille onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT andolfoimmacolata onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene AT russoroberta onegenetwooppositephenotypesacasereportofhereditaryanemiaduetoalossoffunctionvariantintheepas1gene |