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
Xeroderma Pigmentosum-Associated Childhood Interstitial Lung Disease
Sign Up to like & getrecommendations! Published in 2022 at "Turkish Thoracic Journal"
DOI: 10.5152/turkthoracj.2022.20304
Abstract: Chromosomal breakage syndromes are a group of genetic disorders that are ascribable to the autosomal recessive mode of inheritance. Xeroderma pigmentosum is one of the chromosomal breakage syndromes which is due to the involvement of… read more here.
Keywords: xeroderma; lung disease; xeroderma pigmentosum; interstitial lung ... See more keywords