Article
De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia.
Molecular genetics & genomic medicine - 1 Jan 2022
Si Nuo, Zhang Zeya, Huang Xin, Wang Chanchen, Guo Peipei, Pan Bo, Jiang Haiyue
Abstract excerpt
BACKGROUND: Congenital microtia is a common craniofacial malformation resulting from both environmental and genetic factors. Recurrent chromosomal imbalances were observed in patients with microtia. The 22q11.2 deletion is one of the most common microdeletions in human beings. The cell division cycle 45 gene (CDC45) embedded in the proximal 22q11.2 deleted region is involved in craniofacial development. However,...
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