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Quoted phrase not found in phrase index: "Syndromic X-linked intellectual disability Nascimento type"
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A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.
Ma D, Tan J, Zhou J, Zhang J, Cheng J, Luo C, Liu G, Wang Y, Xu Z. Ma D, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e976. doi: 10.1002/mgg3.976. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31566921 Free PMC article.
BACKGROUND: X-linked intellectual disability type Nascimento (XIDTN), caused by mutations in ubiquitin-conjugating enzyme E2A (UBE2A) gene, is characterized by moderate to severe intellectual disability, impaired speech, uro …
BACKGROUND: X-linked intellectual disability type Nascimento (XIDTN), caused by mutations in ubiqu …
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group. Xiol C, et al. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Sci Rep. 2019. PMID: 31427717 Free PMC article.
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, c …
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located …