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Quoted phrase not found in phrase index: "Syndromic X-linked intellectual disability Nascimento type"
Page 1
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
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 …
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
Thunstrom S, Sodermark L, Ivarsson L, Samuelsson L, Stefanova M.
Thunstrom S, et al.
Am J Med Genet A. 2015 Jan;167A(1):204-10. doi: 10.1002/ajmg.a.36800. Epub 2014 Oct 6.
Am J Med Genet A. 2015.
PMID: 25287747
Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of X-linked intellectual disability called UBE2A deficiency syndrome or X- …
Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a …
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Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Tolmacheva EN, Kashevarova AA, Nazarenko LP, Minaycheva LI, Skryabin NA, Lopatkina ME, Nikitina TV, Sazhenova EA, Belyaeva EO, Fonova EA, Salyukova OA, Tarabykin VS, Lebedev IN.
Tolmacheva EN, et al.
Cytogenet Genome Res. 2020;160(5):245-254. doi: 10.1159/000508050. Epub 2020 May 30.
Cytogenet Genome Res. 2020.
PMID: 32485717
We report 2 novel cases of Xq24 microdeletions inherited from mothers with extremely skewed X-chromosome inactivation (sXCI). The first case is a boy presenting with X-linked mental retardation, Nascimento type, due to a 168-kb Xq24 microdeletion invol …
We report 2 novel cases of Xq24 microdeletions inherited from mothers with extremely skewed X-chromosome inactivation (sXCI). The first case …
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