This study used whole exome sequencing on Indonesians with non-syndromic orofacial clefts and found rare deleterious variants in four genes (MMACHC, SOS1, TULP4, MTHFD1L). Importantly, MMACHC is reported for the first time in humans as potentially linked to cleft development, supporting its role along with the other genes in nsOFC pathogenesis.
Read full paper : https://doi.org/10.1177/10556656231210085
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