Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation
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DOI: 10.1111/pde.15176
Abstract: A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia… read more here.
Keywords: mutation; hair heterochromia; heterochromia autism; report case ... See more keywords