CFEOMCongenital Fibrosis of Extraocular Muscles
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The healthy parents harbor normal DNA sequences, whereas the patient with CFEOM exhibits a C.2860OT mutation at the second nucleotide position of codon 954 (p.Arg954Trp) on exon 21 of the K1F21A gene locus.
CFEOM 1 is subdivided to CFEOM 1A and CFEO-Ml B with mutation in KIF21A and TUBB3, respectively (11).
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.