Neurochemistry evaluated by MR spectroscopy in a patient with xeroderma pigmentosum group A
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.06.013
Abstract: MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal… read more here.
Keywords: xeroderma pigmentosum; patient xeroderma; spectroscopy; pigmentosum group ... See more keywords
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C
Sign Up to like & getrecommendations! Published in 2020 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a005165
Abstract: Pathogenic variants in the XPC complex subunit, DNA damage recognition, and repair factor (XPC) are the cause of xeroderma pigmentosum, group C (MIM: 278720). Xeroderma pigmentosum is an inherited condition characterized by hypersensitivity to ultraviolet… read more here.
Keywords: novel missense; xeroderma pigmentosum; deletion; pigmentosum group ... See more keywords