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Abstract: Mutations in connexin26, a cutaneous gap junction protein, cause a wide variety of skin disorders including keratitis‐ichthyosis‐deafness syndrome (KID). We previously delineated a phenotype distinct from KID, hypotrichosis‐deafness syndrome, caused by the mutation p.Asn14Lys in connexin26. However, a different mutation at the same location, p.Asn14Tyr, was reported to cause a disorder...
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