Figure 2From: Absence of mutations in NR2E1 and SNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes Genotyping NR2E1 candidate regulatory mutation in patient 2 and family members. A) DNA sequencing detects g.21502T>C in the 3' UTR of patient 2 but not in unrelated controls. B) Restriction digest detects g.21502T>C in the unaffected mother but not in the unaffected father nor in an unrelated control.Back to article page