Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)-Reference-Cited by-同舟云学术

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)

Published:2008-10-01 Issue:19 Volume:146A Page:2449-2454
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bernaciak Joanna,Szczałuba Krzysztof,Derwińska Katarzyna,Wiśniowiecka-Kowalnik Barbara,Bocian Ewa,Sąsiadek Maria Małgorzata,Makowska Izabela,Stankiewicz Paweł,Śmigiel Robert

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32490/fullpdf

Reference15 articles.

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3. Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: Further evidence for phenotypic heterogeneity;Giampietro;Am J Med Genet Part A,2006

4. Requirement of a Gt box (Sp 1 site) and two Ets binding sites for vascular endothelial cadherin gene transcription;Gory;J Biol Chem,1998

5. The 11q terminal deletion disorder: A prospective study of 110 cases;Grossfeld;Am J Med Genet Part A,2004

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