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First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
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| Published in: | Case Reports in Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
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| _version_ | 1868552982926196737 |
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| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Case Reports in Genetics |
| description | |
| discipline_display | Genetics |
| discipline_facet | Genetics |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:70855 |
| institution | FRELIP |
| journal_source_facet | Case Reports in Genetics |
| last_indexed | 2026-06-20T21:29:44.956Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum Genetics General Genetics |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Genetics General Genetics |
| subject_facet | Genetics General Genetics |
| title | First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum |
| title_alt | Primer caso tailandés de displasia letal de Desbuquois tipo I causada por nuevas mutaciones heterocigotas compuestas en CANT1: ampliando el espectro molecular Premier cas thaïlandais de dysplasie létale de Desbuquois type I causée par de nouvelles mutations hétérozygotes composites de CANT1 : élargissement du spectre moléculaire Primeiro Caso Tailandês de Displasia Desbuquois Letal Tipo I Causada por Novas Mutações Heterozigóticas Compostas CANT1: Expandindo o Espectro Molecular |
| title_auth | First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum |
| title_es_txt | Primer caso tailandés de displasia letal de Desbuquois tipo I causada por nuevas mutaciones heterocigotas compuestas en CANT1: ampliando el espectro molecular |
| title_fr_txt | Premier cas thaïlandais de dysplasie létale de Desbuquois type I causée par de nouvelles mutations hétérozygotes composites de CANT1 : élargissement du spectre moléculaire |
| title_full | First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum |
| title_fullStr | First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum |
| title_full_unstemmed | First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum |
| title_pt_txt | Primeiro Caso Tailandês de Displasia Desbuquois Letal Tipo I Causada por Novas Mutações Heterozigóticas Compostas CANT1: Expandindo o Espectro Molecular |
| title_short | First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum |
| title_sort | first thai case of lethal desbuquois dysplasia type i caused by novel compound heterozygous cant1 mutations: expanding the molecular spectrum |
| topic | Genetics General Genetics |
| url | https://www.hindawi.com/journals/crig/2026/9550632/ |