Whole Exome Sequencing Identifies Damaging Variants in Indonesians with Clefts

CONCLUSIONS: 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.PMID:37876262 | DOI:10.1177/10556656231210085

Source: The Cleft Palate-Craniofacial Journal - October 25, 2023 Category: ENT & OMF Authors: Emmanuel Aladenika Ani Maskoen Waheed Awotoye Rasyid Abdulaziz Azeez Alade Saskia Lenggogeni Nasroen Abimbola Oladayo Tamara Busch Erli Sarilita Azeez Butali Source Type: research