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A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts
A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This mi...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187765/ https://www.ncbi.nlm.nih.gov/pubmed/35688819 http://dx.doi.org/10.1038/s41439-022-00199-5 |
| _version_ | 1784725238043377664 |
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| author | Yakabe, Ayane Ikuse, Tamaki Ito, Natsuki Yamada, Hiromichi Saito, Nobutomo Kitamura, Yuri Iwasaki, Tomohiro Ikeno, Mitsuru Suganuma, Hiroki Abe, Shinpei Miyazaki, Nao Hisata, Ken Shoji, Hiromichi Nakazawa, Tomoyuki Eguchi, Hidetaka Shimizu, Toshiaki |
| author_facet | Yakabe, Ayane Ikuse, Tamaki Ito, Natsuki Yamada, Hiromichi Saito, Nobutomo Kitamura, Yuri Iwasaki, Tomohiro Ikeno, Mitsuru Suganuma, Hiroki Abe, Shinpei Miyazaki, Nao Hisata, Ken Shoji, Hiromichi Nakazawa, Tomoyuki Eguchi, Hidetaka Shimizu, Toshiaki |
| author_sort | Yakabe, Ayane |
| collection | PubMed |
| description | A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of COL4A1 variants and is associated with a COL4A1-related disorder. |
| format | Online Article Text |
| id | pubmed-9187765 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-91877652022-06-12 A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts Yakabe, Ayane Ikuse, Tamaki Ito, Natsuki Yamada, Hiromichi Saito, Nobutomo Kitamura, Yuri Iwasaki, Tomohiro Ikeno, Mitsuru Suganuma, Hiroki Abe, Shinpei Miyazaki, Nao Hisata, Ken Shoji, Hiromichi Nakazawa, Tomoyuki Eguchi, Hidetaka Shimizu, Toshiaki Hum Genome Var Data Report A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of COL4A1 variants and is associated with a COL4A1-related disorder. Nature Publishing Group UK 2022-06-10 /pmc/articles/PMC9187765/ /pubmed/35688819 http://dx.doi.org/10.1038/s41439-022-00199-5 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Data Report Yakabe, Ayane Ikuse, Tamaki Ito, Natsuki Yamada, Hiromichi Saito, Nobutomo Kitamura, Yuri Iwasaki, Tomohiro Ikeno, Mitsuru Suganuma, Hiroki Abe, Shinpei Miyazaki, Nao Hisata, Ken Shoji, Hiromichi Nakazawa, Tomoyuki Eguchi, Hidetaka Shimizu, Toshiaki A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts |
| title | A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts |
| title_full | A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts |
| title_fullStr | A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts |
| title_full_unstemmed | A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts |
| title_short | A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts |
| title_sort | col4a1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187765/ https://www.ncbi.nlm.nih.gov/pubmed/35688819 http://dx.doi.org/10.1038/s41439-022-00199-5 |
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