A novel PTCH1 mutation underlies nonsyndromic cleft lip and/or palate in a Han Chinese family.

Huaxiang ZhaoWenjie ZhongChuntao LengJieni ZhangMengqi ZhangWenbin HuangYunfan ZhangWeiran LiPeizeng JiaJiuxiang LinGulibaha MaimaitiliFeng Chen

Published in: Oral diseases (2018)

Our findings suggest that c.1175C>T in PTCH1 (NM_000264) may be the causative mutation of this pedigree. Our results add to the evidence that PTCH1 variants play a role in the pathogenesis of orofacial clefts.

Keyphrases

copy number
photodynamic therapy
dna methylation