Rare Coats syndrome in FSHD1 links to large D4Z4 contractions; supports targeted retinal screening in ≤15 kb alleles but requires prospective validation.
Investigators at University of Rochester Medical Center, NY; Hopital Archet-CHU de Nice, France; and Albert Einstein College of Medicine, NY, studied the frequency of Coats syndrome and its association with D4Z4 contraction size in 408 patients identified with facioscapulohumeral dystrophy type 1 (FSHD1).
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J Gordon Millichap (2013) studied this question.
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