A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Saved in:
| Title: | A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. |
|---|---|
| Authors: | Mo A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Paz-Ebstein E; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Yanovsky-Dagan S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Lai A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Gilboa T; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Pediatric Neurology Unit, Hadassah Medical Center, Jerusalem, Israel., Yang E; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts, USA., Shao DD; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Walsh CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. |
| Source: | Clinical genetics [Clin Genet] 2023 Jul; Vol. 104 (1), pp. 73-80. Date of Electronic Publication: 2023 Apr 02. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1399-0004 |
|---|---|
| DOI: | 10.1111/cge.14335 |
