Die X-chromosomale syndromale mentale Retardierung 13 ist eine rezessive Erkrankung, die durch Mutationen im MECP2-Gen hervorgerufen wird.
1. |
Moog U et al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). |
2. |
None (2007) MECP2 mutations in males. |
3. |
Claes S et al. (1997) X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies. |
4. |
Gendrot C et al. (1999) X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. |
5. |
Meloni I et al. (2000) A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. |
6. |
Orrico A et al. (2000) MECP2 mutation in male patients with non-specific X-linked mental retardation. |
7. |
Couvert P et al. (2001) MECP2 is highly mutated in X-linked mental retardation. |
8. |
Dotti MT et al. (2002) A Rett syndrome MECP2 mutation that causes mental retardation in men. |
9. |
Yntema HG et al. (2002) In-frame deletion in MECP2 causes mild nonspecific mental retardation. |
10. |
Klauck SM et al. (2002) A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. |
11. |
Winnepenninckx B et al. (2002) Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? |
12. |
Gomot M et al. (2003) MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. |
13. |
Lindsay S et al. (1996) PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. |
14. |
OMIM.ORG article Omim 300055 |
15. |
Orphanet article Orphanet ID 3077 |
16. |
Wikipedia Artikel Wikipedia DE (Lindsay-Burn-Syndrom) |