Article
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
European journal of medical genetics - 1 Jan 2000
Caliebe Almuth, Kroes Hester Y, van der Smagt Jasper J, Martin-Subero José I, Tönnies Holger, van 't Slot Ruben, Nievelstein Rutger A J, Muhle Hiltrud, Stephani Ulrich, Alfke Karsten, Stefanova Irina, Hellenbroich Yorck, Gillessen-Kaesbach Gabriele, Hochstenbach Ron, Siebert Reiner, Poot Martin
Abstract excerpt
Structural genome aberrations are frequently associated with highly variable congenital phenotypes involving mental retardation and developmental delay. Although some of these aberrations may result in recognizable phenotypes, a high degree of phenotypic variability often complicates a comprehensive clinical and genetic diagnosis. We describe four patients with overlapping deletions in chromosomal region 1q44,...
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