PMC5329763_01
Family pedigree showing the consanguinity of patients' parents
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F1
He was the first child of healthy first-cousin Iranian parents whose second child had congenital microcephaly and hypotonia and died at the age of 12 months without any specific diagnosis (Figure 1).
Nucleotide change in KIAA1279 gene in patient (A) and his parents (B
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F2
Targeted sequencing on the parents showed the expected segregation pattern (Figure 2).