Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference25 articles.
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2. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1);Yamada;Nat Genet,2003
3. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles;Engle;Ann Neurol,1997
4. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A;Demer;Invest Ophthalmol Vis Sci,2005
5. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2;Nakano;Nat Genet,2001
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