Results: 2

1.
Figure 1

Figure 1. From: Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia.

Phenotypes of the affected boy and his parents. (A) The pedigree, showing the boy inheriting CFEOM from his mother and aniridia from his father. (B) The boy and his mother, both of them with typical clinical features of CFEOM1. (C) The photo of the anterior segment in the left eye of the boy’s father, showing aniridia. (D) Aniridia in the left eye of the boy.

Ming Ying, et al. BMC Med Genet. 2013;14:63-63.
2.
Figure 2

Figure 2. From: Inherited KIF21A and PAX6 gene mutations in a boy with congenital Fibrosis of extraocular muscles and aniridia.

Heterozygous mutations in the KIF21A and PAX6. (A) A C to T change at 2860 nt in exon 21 of the KIF21A resulting in Arginine (A) at condon 954 substituted by Tryptophan (W); (B) A 1-bp deletion in exon11 of PAX6 gene was detected by cloning sequencing, which resulted in a frameshift mutation (p.Leu249TyrfsX22).

Ming Ying, et al. BMC Med Genet. 2013;14:63-63.

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