A Novel Chromosome 19p13.12 Deletion in a Child with Multiple Congenital Anomalies

We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1, SIX1, and SIX5, genes that u...

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Hlavní autoři: Jensen, Daniel R., Martin, Donna M., Gebarski, Stephen, Sahoo, Trilochan, Brundage, Ellen, Chinault, Craig A., Otto, Edgar, Chaki, Moumita, Hildebrandt, Friedhelm, Cheung, Sau Wai, Lesperance, Marci M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2872113/
https://ncbi.nlm.nih.gov/pubmed/19215039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32691
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