Academic Journal
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report
| العنوان: | Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report |
|---|---|
| المؤلفون: | Bader, Ingrid, McTiernan, Nina, Darbakk, Christine, Boltshauser, Eugen, Ree, Rasmus, Ebner, Sabine, Mayr, Johannes A., Arnesen, Thomas |
| المساهمون: | Research Council of Norway, Norwegian Health Authorities of Western Norway, Norwegian Cancer Society, ERA‐Net E‐Rare project GENOMIT, Vereinigung zur Förderung Pädiatrischer Forschung und Fortbildung Salzburg |
| المصدر: | BMC Medical Genetics ; volume 21, issue 1 ; ISSN 1471-2350 |
| بيانات النشر: | Springer Science and Business Media LLC |
| سنة النشر: | 2020 |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1186/s12881-020-01091-1 |
| DOI: | 10.1186/s12881-020-01091-1.pdf |
| DOI: | 10.1186/s12881-020-01091-1/fulltext.html |
| الاتاحة: | http://dx.doi.org/10.1186/s12881-020-01091-1 http://link.springer.com/content/pdf/10.1186/s12881-020-01091-1.pdf http://link.springer.com/article/10.1186/s12881-020-01091-1/fulltext.html |
| Rights: | http://creativecommons.org/licenses/by/4.0/ ; http://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.D441476F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s12881-020-01091-1 |
|---|