P154: A truncating variant in RFX7 causing developmental delay and intellectual disability
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423001838 |
| _version_ | 1797342007531667456 |
|---|---|
| author | Attila Dos Santos Talia Sisroe Dong Li Elizabeth Bhoj Beverly Nelson Andrew Sobering |
| author_facet | Attila Dos Santos Talia Sisroe Dong Li Elizabeth Bhoj Beverly Nelson Andrew Sobering |
| author_sort | Attila Dos Santos |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:27:12Z |
| format | Article |
| id | doaj.art-08bec2f460784d5b9d36e1ab41f3a606 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:27:12Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-08bec2f460784d5b9d36e1ab41f3a6062024-01-27T07:04:35ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100183P154: A truncating variant in RFX7 causing developmental delay and intellectual disabilityAttila Dos Santos0Talia Sisroe1Dong Li2Elizabeth Bhoj3Beverly Nelson4Andrew Sobering5Augusta University/University of Georgia Athens Medical Partnership Campus of the Medical College of GeorgiaAugusta University/University of Georgia Athens Medical Partnership Campus of the Medical College of GeorgiaThe Children’s Hospital of PhiladelphiaThe Children’s Hospital of PhiladelphiaSt. George’s University School of MedicineAugusta University/University of Georgia Athens Medical Partnership Campus of the Medical College of Georgiahttp://www.sciencedirect.com/science/article/pii/S2949774423001838 |
| spellingShingle | Attila Dos Santos Talia Sisroe Dong Li Elizabeth Bhoj Beverly Nelson Andrew Sobering P154: A truncating variant in RFX7 causing developmental delay and intellectual disability Genetics in Medicine Open |
| title | P154: A truncating variant in RFX7 causing developmental delay and intellectual disability |
| title_full | P154: A truncating variant in RFX7 causing developmental delay and intellectual disability |
| title_fullStr | P154: A truncating variant in RFX7 causing developmental delay and intellectual disability |
| title_full_unstemmed | P154: A truncating variant in RFX7 causing developmental delay and intellectual disability |
| title_short | P154: A truncating variant in RFX7 causing developmental delay and intellectual disability |
| title_sort | p154 a truncating variant in rfx7 causing developmental delay and intellectual disability |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423001838 |
| work_keys_str_mv | AT attiladossantos p154atruncatingvariantinrfx7causingdevelopmentaldelayandintellectualdisability AT taliasisroe p154atruncatingvariantinrfx7causingdevelopmentaldelayandintellectualdisability AT dongli p154atruncatingvariantinrfx7causingdevelopmentaldelayandintellectualdisability AT elizabethbhoj p154atruncatingvariantinrfx7causingdevelopmentaldelayandintellectualdisability AT beverlynelson p154atruncatingvariantinrfx7causingdevelopmentaldelayandintellectualdisability AT andrewsobering p154atruncatingvariantinrfx7causingdevelopmentaldelayandintellectualdisability |