Article
Identification of a novel CYP26A1 mutation in a Chinese family with congenital microtia.
International journal of pediatric otorhinolaryngology - 1 Dec 2020
Guo Peipei, Ji Zhonglei, Jiang Haiyue, Huang Xin, Wang Changchen, Pan Bo
Abstract excerpt
OBJECTIVES: Microtia is defined as a congenital malformation characterized by a small, abnormally shaped auricle, with atresia or stenosis of the auditory canal. This study investigated a mutation of the cytochrome P450, family 26, subfamily A, polypeptide 1(CYP26A1) gene, which is considered important in craniofacial development, in a family affected with microtia. METHODS: Whole-exome sequencing (WES) was...
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