Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene-Reference-Cited by-同舟云学术

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene

Published:2010-07 Issue:4 Volume:53 Page:179-185
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference20 articles.

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3. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum;Boland;Am. J. Hum. Genet.,2007

4. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis;van Bon;J. Med. Genet.,2008

5. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome;Flipsen-ten Berg;Eur. J. Hum. Genet.,2007

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