MECP2 Mutations and Rett Syndrome Phenotypes
Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.
मुख्य लेखक: | J Gordon Millichap |
---|---|
स्वरूप: | लेख |
भाषा: | English |
प्रकाशित: |
Pediatric Neurology Briefs Publishers
2000-05-01
|
श्रृंखला: | Pediatric Neurology Briefs |
विषय: | |
ऑनलाइन पहुंच: | https://www.pediatricneurologybriefs.com/articles/1936 |
समान संसाधन
-
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
द्वारा: Satoru Takahashi, और अन्य
प्रकाशित: (2020-03-01) -
Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
द्वारा: J Gordon Millichap
प्रकाशित: (2006-08-01) -
Broadening the Phenotype Spectrum of MECP2 Variants in Men
द्वारा: Johannes Lötjönen, और अन्य
प्रकाशित: (2025-02-01) -
Rett Syndrome without MECP2 Mutation in a Pakistani Girl
द्वारा: Rubina Dad, और अन्य
प्रकाशित: (2020-04-01) -
Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome
द्वारा: Dumitriu Simona, और अन्य
प्रकाशित: (2013-12-01)