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FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available litera...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000936/ https://www.ncbi.nlm.nih.gov/pubmed/35255187 http://dx.doi.org/10.1002/mgg3.1899 |
| _version_ | 1784685557609136128 |
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| author | Badura‐Stronka, Magdalena Śmigiel, Robert Rutkowska, Karolina Szymańska, Krystyna Hirschfeld, Adam Sebastian Monkiewicz, Michał Kosińska, Joanna Wolańska, Ewelina Rydzanicz, Małgorzata Latos‐Bieleńska, Anna Płoski, Rafał |
| author_facet | Badura‐Stronka, Magdalena Śmigiel, Robert Rutkowska, Karolina Szymańska, Krystyna Hirschfeld, Adam Sebastian Monkiewicz, Michał Kosińska, Joanna Wolańska, Ewelina Rydzanicz, Małgorzata Latos‐Bieleńska, Anna Płoski, Rafał |
| author_sort | Badura‐Stronka, Magdalena |
| collection | PubMed |
| description | We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood.[Image: see text] |
| format | Online Article Text |
| id | pubmed-9000936 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-90009362022-04-15 FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood Badura‐Stronka, Magdalena Śmigiel, Robert Rutkowska, Karolina Szymańska, Krystyna Hirschfeld, Adam Sebastian Monkiewicz, Michał Kosińska, Joanna Wolańska, Ewelina Rydzanicz, Małgorzata Latos‐Bieleńska, Anna Płoski, Rafał Mol Genet Genomic Med Original Articles We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood.[Image: see text] John Wiley and Sons Inc. 2022-03-07 /pmc/articles/PMC9000936/ /pubmed/35255187 http://dx.doi.org/10.1002/mgg3.1899 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Original Articles Badura‐Stronka, Magdalena Śmigiel, Robert Rutkowska, Karolina Szymańska, Krystyna Hirschfeld, Adam Sebastian Monkiewicz, Michał Kosińska, Joanna Wolańska, Ewelina Rydzanicz, Małgorzata Latos‐Bieleńska, Anna Płoski, Rafał FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood |
| title |
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
|
| title_full |
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
|
| title_fullStr |
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
|
| title_full_unstemmed |
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
|
| title_short |
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
|
| title_sort | finca syndrome—defining neurobehavioral phenotype in survivors into late childhood |
| topic | Original Articles |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000936/ https://www.ncbi.nlm.nih.gov/pubmed/35255187 http://dx.doi.org/10.1002/mgg3.1899 |
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