24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism-Reference-Cited by-同舟云学术

24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism

Published:2006-11 Issue:6 Volume:49 Page:516-519
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Chen C.-P.,Wang T.-H.,Lin S.-P.,Chern S.-R.,Chen M.-R.,Lee C.-C.,Chen Y.-J.,Wang W.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference5 articles.

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3. Role of Fabp7, a downstream gene of Pax6, in the maintenance of neuroepithelial cells during early embryonic development of the rat cortex;Arai;J. Neurosci.,2005

4. Connective tissue growth factor expression and Smad signaling during mouse heart development and myocardial infarction;Chuva de Sousa Lopes;Dev. Dyn.,2004

5. Targeted disruption of the heat shock transcription factor (hsf)-2 gene results in increased embryonic lethality, neuronal defects, and reduced spermatogenesis;Wang;Genesis,2003

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1. 6q21–22 deletion syndrome with interrupted aortic arch;Human Genome Variation;2015-06-11

2. Recurrent CNVs in the Etiology of Epigenetic Neurodevelopmental Disorders;Epigenetics and Complex Traits;2013

3. Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases;neurogenetics;2012-01-05

4. CGcgh: a tool for molecular karyotyping using DNA microarray-based comparative genomic hybridization (array-CGH);Journal of Biomedical Science;2008-08-19