Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders
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DOI: 10.1016/j.arr.2016.06.002
Abstract: Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease which manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for… read more here.
Keywords: rothmund thomson; syndrome related; thomson syndrome; related recql4 ... See more keywords
Pili annulati in a case of Rothmund–Thomson syndrome with a novel frameshift mutation in RECQL4
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14742
Abstract: subtype of Well’s syndrome or a separate disease entity. Absence of eosinophilic degranulation, flame figures and peripheral blood eosinophilia, as described in our case, speaks in favour of two distinct entities. However, further studies investigating… read more here.
Keywords: rothmund thomson; case; pili annulati; case rothmund ... See more keywords