Novel KIT mutation presenting as marked lentiginosis
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Dermatology"
DOI: 10.1111/pde.13952
Abstract: Although lentigines are usually benign, they can be associated with a number of genetic syndromes in which neoplasms and other multi‐system pathological processes occur. Here, we report the case of a 6‐year‐old girl who presented… read more here.
Keywords: novel kit; mutation presenting; kit; presenting marked ... See more keywords
MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy
Sign Up to like & getrecommendations! Published in 2021 at "Neurology India"
DOI: 10.4103/0028-3886.333468
Abstract: Mitochondrial DNA depletion syndromes (MDS) are rare mitochondrial disorders with evolving broad genotype and phenotype. This is a first case report from India about MPV 17, a mitochondrial inner membrane protein gene variant mutation, presenting… read more here.
Keywords: gene variant; mpv17 gene; mutation presenting; variant mutation ... See more keywords