Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention
Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. It presents the ba...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2006-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/tsw.2006.249 |
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| _version_ | 1832564498700959744 |
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| author | Meir Lotan Bruria Ben-Zeev |
| author_facet | Meir Lotan Bruria Ben-Zeev |
| author_sort | Meir Lotan |
| collection | DOAJ |
| description | Rett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. It presents the basic understanding of common characteristics typical of this disorder, and the variants from the classical expression of RS. The present article will review the current literature on RS, specially focusing on the clinical characteristics of the disorder. The intention of the article is to set a clear, up-to-date picture of the individual with RS to prepare the clinician for their future meetings with this population. |
| format | Article |
| id | doaj-art-b43c810878454cc8ada8347e329c2c60 |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2006-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-b43c810878454cc8ada8347e329c2c602025-02-03T01:10:56ZengWileyThe Scientific World Journal1537-744X2006-01-0161517154110.1100/tsw.2006.249Rett Syndrome. A Review with Emphasis on Clinical Characteristics and InterventionMeir Lotan0Bruria Ben-Zeev1Israeli Rett Syndrome Association National Evaluation Team and National Rett Syndrome Clinic Chaim Sheba Medical Center, Ramat-Gan, IsraelIsraeli Rett Syndrome Association National Evaluation Team and National Rett Syndrome Clinic Chaim Sheba Medical Center, Ramat-Gan, IsraelRett syndrome (RS) is a genetic disorder affecting mainly females. In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. It presents the basic understanding of common characteristics typical of this disorder, and the variants from the classical expression of RS. The present article will review the current literature on RS, specially focusing on the clinical characteristics of the disorder. The intention of the article is to set a clear, up-to-date picture of the individual with RS to prepare the clinician for their future meetings with this population.http://dx.doi.org/10.1100/tsw.2006.249 |
| spellingShingle | Meir Lotan Bruria Ben-Zeev Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention The Scientific World Journal |
| title | Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention |
| title_full | Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention |
| title_fullStr | Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention |
| title_full_unstemmed | Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention |
| title_short | Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention |
| title_sort | rett syndrome a review with emphasis on clinical characteristics and intervention |
| url | http://dx.doi.org/10.1100/tsw.2006.249 |
| work_keys_str_mv | AT meirlotan rettsyndromeareviewwithemphasisonclinicalcharacteristicsandintervention AT bruriabenzeev rettsyndromeareviewwithemphasisonclinicalcharacteristicsandintervention |