LAUSR

Pili annulati in a case of Rothmund–Thomson syndrome with a novel frameshift mutation in RECQL4

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1 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