دورية أكاديمية
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
| العنوان: | Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion |
|---|---|
| المؤلفون: | Tetsuya Okazaki, Tatsuya Kawaguchi, Yusuke Saiki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Ken Saida, Naomichi Matsumoto, Eiji Nanba, Yoshihiro Maegaki |
| المصدر: | Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022) |
| بيانات النشر: | Nature Publishing Group, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Genetics LCC:Life |
| مصطلحات موضوعية: | Genetics, QH426-470, Life, QH501-531 |
| الوصف: | Abstract There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 99282717–100062596) (hg19). The following genes were included in this region: POU3F2, FBXL4, FAXC, COQ3, PNISR, USP45, TSTD3, CCNC, and PRDM13. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2054-345X |
| Relation: | https://doaj.org/toc/2054-345X |
| DOI: | 10.1038/s41439-022-00194-w |
| URL الوصول: | https://doaj.org/article/8f3b653c026c4d3fb65684049842d799 |
| رقم الأكسشن: | edsdoj.8f3b653c026c4d3fb65684049842d799 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 2054345X |
|---|---|
| DOI: | 10.1038/s41439-022-00194-w |