Rothmund-Thomson syndrome: a report of two patients and a review of the literature
- 1 June 1990
- journal article
- review article
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 122 (6) , 821-829
- https://doi.org/10.1111/j.1365-2133.1990.tb06272.x
Abstract
Two siblings with poikiloderma, short stature and other abnormalities are described. They were originally reported as having Morquio syndrome; subsequently, mucopolysaccharidosis was excluded biochemically and they were classified as ''a newly recognized syndrome of connective tissue dysplasia''. It is now clear that their disorder is the Rothmund-Thomson syndrome (RTS).This publication has 48 references indexed in Scilit:
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