A novel <i><scp>PTCH</scp>1</i> mutation underlies nonsyndromic cleft lip and/or palate in a Han Chinese family

Abstract

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.