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Quoted phrase not found in phrase index: "Syndromic X-linked intellectual disability Lubs type"
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Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome.
Marafi D, Suter B, Schultz R, Glaze D, Pavlik VN, Goldman AM. Marafi D, et al. Neurology. 2019 Jan 8;92(2):e108-e114. doi: 10.1212/WNL.0000000000006742. Epub 2018 Dec 14. Neurology. 2019. PMID: 30552298 Free PMC article.
OBJECTIVE: We characterized the epilepsy features and contribution to cognitive regression in 47 patients with MECP2 duplication syndrome (MDS) and reviewed these characteristics in over 280 MDS published cases. ...It was treatment-refractory and consistent with epileptic …
OBJECTIVE: We characterized the epilepsy features and contribution to cognitive regression in 47 patients with MECP2 duplication syndrome …
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D. Jin H, et al. Nat Genet. 1996 Oct;14(2):177-80. doi: 10.1038/ng1096-177. Nat Genet. 1996. PMID: 8841189
In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a large Norwegian pedigree. ...This new disorder, termed Mohr-Tranebjaerg syndrome (referred to here as DFN-1/MTS) was mapped to the Xq21. …
In 1960, progressive sensorineural deafness (McKusick 304,700, DFN-1) was shown to be X-linked based on a description of a lar …