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A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum
Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mu...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842148/ https://www.ncbi.nlm.nih.gov/pubmed/29531774 http://dx.doi.org/10.1038/hgv.2018.5 |
| _version_ | 1783304853103050752 |
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| author | Sakaguchi, Tomohiro Žigman, Tamara Petković Ramadža, Danijela Omerza, Lana Pušeljić, Silvija Ereš Hrvaćanin, Zrinka Miyake, Noriko Matsumoto, Naomichi Barić, Ivo |
| author_facet | Sakaguchi, Tomohiro Žigman, Tamara Petković Ramadža, Danijela Omerza, Lana Pušeljić, Silvija Ereš Hrvaćanin, Zrinka Miyake, Noriko Matsumoto, Naomichi Barić, Ivo |
| author_sort | Sakaguchi, Tomohiro |
| collection | PubMed |
| description | Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features. |
| format | Online Article Text |
| id | pubmed-5842148 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-58421482018-03-12 A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum Sakaguchi, Tomohiro Žigman, Tamara Petković Ramadža, Danijela Omerza, Lana Pušeljić, Silvija Ereš Hrvaćanin, Zrinka Miyake, Noriko Matsumoto, Naomichi Barić, Ivo Hum Genome Var Data Report Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features. Nature Publishing Group 2018-03-08 /pmc/articles/PMC5842148/ /pubmed/29531774 http://dx.doi.org/10.1038/hgv.2018.5 Text en Copyright © 2018 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| spellingShingle | Data Report Sakaguchi, Tomohiro Žigman, Tamara Petković Ramadža, Danijela Omerza, Lana Pušeljić, Silvija Ereš Hrvaćanin, Zrinka Miyake, Noriko Matsumoto, Naomichi Barić, Ivo A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum |
| title | A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum |
| title_full | A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum |
| title_fullStr | A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum |
| title_full_unstemmed | A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum |
| title_short | A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum |
| title_sort | novel pgap3 mutation in a croatian boy with brachytelephalangy and a thin corpus callosum |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842148/ https://www.ncbi.nlm.nih.gov/pubmed/29531774 http://dx.doi.org/10.1038/hgv.2018.5 |
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