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2020 | 1 |
2023 | 1 |
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Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Hum Mol Genet. 2023 Nov 3;32(22):3123-3134. doi: 10.1093/hmg/ddad079.
Hum Mol Genet. 2023.
PMID: 37166351
Free PMC article.
Review.
A review of the clinical and genetic features of the SETD2 patient group revealed that, as reported previously, there were phenotypic differences between patients with truncating mutations (n = 4, Luscan-Lumish syndrome; MIM:616831) and those with missense co …
A review of the clinical and genetic features of the SETD2 patient group revealed that, as reported previously, there were phenotypic differ …
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J.
Rabin R, et al.
Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24.
Am J Med Genet A. 2020.
PMID: 32710489
Heterozygous loss of function and missense variants have previously been described with Luscan-Lumish syndrome (LLS), which is characterized by overgrowth, neurodevelopmental features, and absence of overt congenital anomalies. ...Our report is a prime exampl …
Heterozygous loss of function and missense variants have previously been described with Luscan-Lumish syndrome (LLS), w …
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