GeneticsAmerican Journal of Medical Genetics Part APeer-reviewed
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis and polydactyly
Anjana Kar, Shubha Rajendra Phadke, Aneek Das Bhowmik, Ashwin Bhikaji Dalal
The paper identifies a synonymous mutation in ARMC9 causing syndromic intellectual disability, ptosis, and polydactyly through homozygosity mapping and exome sequencing.
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