Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das Kabuki-Syndrom ist charakterisiert durch typische Veränderungen des Gesichtsschädels. Die weiteren Skelettveränderungen führen zu Kleinwuchs. Auch wird eine mentale Retardierung beobachtet.
| 1. |
Lederer D et al. (2012) Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 
|
| 2. |
Miyake N et al. (2013) KDM6A point mutations cause Kabuki syndrome.
|
| 3. |
Miyake N et al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.
|
| 4. |
Micale L et al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
|
| 5. |
Lederer D et al. (2014) A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
|
| 6. |
Van Laarhoven PM et al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
|
| 7. |
Niikawa N et al. (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
|
| 8. |
OMIM.ORG article Omim 300867
|
| 9. |
Orphanet article Orphanet ID 2322
|
| 10. |
Wikipedia Artikel Wikipedia DE (Kabuki-Syndrom)
|
 |
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944 Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum |
