Whole Exome Sequencing Identifies Damaging Variants in Indonesians with Clefts.
Emmanuel AladenikaAni MaskoenWaheed AwotoyeRasyid AbdulazizAzeez AladeSaskia Lenggogeni NasroenAbimbola OladayoTamara BuschErli SarilitaAzeez ButaliPublished in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2023)
Our study provides additional evidence for the role of TULP4, SOS1, MTHFD1L and MMACHC genes in nsOFC development. This is the first time MMACHC is implicated in nsOFC development in humans.