Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.
Molecular genetics & genomic medicine(2023)
摘要
This study provides evidence that IRF6 variants are found in the South African population. Genetic counselling is essential for affected families, particularly in the absence of a known clinical phenotype since it helps with the plans for future pregnancies.
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关键词
IRF6,South Africa,Van der Woude syndrome,orofacial clefts,popliteal pterygium syndrome
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