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Quoted phrase not found in phrase index: "Syndromic X-linked intellectual disability Nascimento type"
Page 1
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.
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 …
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