Deficits in early neural tube identity found in CHARGE syndrome
Long predicted from studies of model vertebrates, the first human example of abnormal patterning of the early neural tube leading to underdevelopment of the cerebellum has been demonstrated.
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
eLife Sciences Publications Ltd
2013-12-01
|
| Series: | eLife |
| Subjects: | |
| Online Access: | https://elifesciences.org/articles/01873 |
| _version_ | 1811227496308277248 |
|---|---|
| author | Parthiv Haldipur Kathleen J Millen |
| author_facet | Parthiv Haldipur Kathleen J Millen |
| author_sort | Parthiv Haldipur |
| collection | DOAJ |
| description | Long predicted from studies of model vertebrates, the first human example of abnormal patterning of the early neural tube leading to underdevelopment of the cerebellum has been demonstrated. |
| first_indexed | 2024-04-12T09:42:32Z |
| format | Article |
| id | doaj.art-8f1e1a7f1b6d414a8c5d393c40b0c563 |
| institution | Directory Open Access Journal |
| issn | 2050-084X |
| language | English |
| last_indexed | 2024-04-12T09:42:32Z |
| publishDate | 2013-12-01 |
| publisher | eLife Sciences Publications Ltd |
| record_format | Article |
| series | eLife |
| spelling | doaj.art-8f1e1a7f1b6d414a8c5d393c40b0c5632022-12-22T03:38:02ZengeLife Sciences Publications LtdeLife2050-084X2013-12-01210.7554/eLife.01873Deficits in early neural tube identity found in CHARGE syndromeParthiv Haldipur0Kathleen J Millen1Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, United StatesCenter for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, United StatesLong predicted from studies of model vertebrates, the first human example of abnormal patterning of the early neural tube leading to underdevelopment of the cerebellum has been demonstrated.https://elifesciences.org/articles/01873Cerebellar malformationcerebellumCHARGE syndromeCHD7FGF8OTX2/GBX2 |
| spellingShingle | Parthiv Haldipur Kathleen J Millen Deficits in early neural tube identity found in CHARGE syndrome eLife Cerebellar malformation cerebellum CHARGE syndrome CHD7 FGF8 OTX2/GBX2 |
| title | Deficits in early neural tube identity found in CHARGE syndrome |
| title_full | Deficits in early neural tube identity found in CHARGE syndrome |
| title_fullStr | Deficits in early neural tube identity found in CHARGE syndrome |
| title_full_unstemmed | Deficits in early neural tube identity found in CHARGE syndrome |
| title_short | Deficits in early neural tube identity found in CHARGE syndrome |
| title_sort | deficits in early neural tube identity found in charge syndrome |
| topic | Cerebellar malformation cerebellum CHARGE syndrome CHD7 FGF8 OTX2/GBX2 |
| url | https://elifesciences.org/articles/01873 |
| work_keys_str_mv | AT parthivhaldipur deficitsinearlyneuraltubeidentityfoundinchargesyndrome AT kathleenjmillen deficitsinearlyneuraltubeidentityfoundinchargesyndrome |