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Mutated ANO5. Sequencing analysis detects homozygous mutation variation of c.220C > T in exon 11 of ANO5 in the proband and 4 family members III2, III11, III13, and III15 (A–E); compound heterozygous mutation of c.220C > T in exon 11 of ANO5 in the family member IV4 (F). ANO5 = anoctamin 5.
