Familial isolated acanthosis nigricans due to a recurrent FGFR3 truncating mutation.
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DOI: 10.1093/ced/llad078
Abstract: Few cases of isolated (non-syndromic, non-endocrinopathy) cases of familial acanthosis nigricans (FAN) have been described, and most without genetic testing. We present a three-generation family with isolated FAN, whose genetic study revealed an heterozygous FGFR3… read more here.
Keywords: acanthosis; familial isolated; acanthosis nigricans; isolated acanthosis ... See more keywords