Article
A novel PTCH1 mutation underlies nonsyndromic cleft lip and/or palate in a Han Chinese family.
Oral diseases - 1 Oct 2018
Zhao Huaxiang, Zhong Wenjie, Leng Chuntao, Zhang Jieni, Zhang Mengqi, Huang Wenbin, Zhang Yunfan, Li Weiran, Jia Peizeng, Lin Jiuxiang, Maimaitili Gulibaha, Chen Feng
Abstract excerpt
OBJECTIVES: Cleft lip and/or palate (CL/P) is the most common craniofacial congenital disease, and it has a complex aetiology. This study aimed to identify the causative gene mutation of a Han Chinese family with CL/P. SUBJECTS AND METHODS: Whole exome sequencing was conducted on the proband and her mother, who exhibited the same phenotype. A Mendelian dominant inheritance model, allele frequency, mutation...
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