Ancestral analysis of a Native American Ecuadorian family with congenital insensitivity to pain with anhidrosis
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DOI: 10.1016/j.fsigss.2019.09.049
Abstract: Abstract Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder characterized by self-mutilating behavior, unexplained fever, inability to sweat and intellectual disability. CIPA pathogenesis is associated with genetic loss-of-function mutations… read more here.
Keywords: insensitivity pain; american ecuadorian; family; congenital insensitivity ... See more keywords