Excision repair defect in Rothmund Thomson syndrome

Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. The main clinical feature is poikiloderma appearing in early childhood associated with skeletal abnormalities. Early occurrence of malignancies is another relevant feature. Here we describe the clinical features of 2 patients wit...

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Veröffentlicht in:	Acta dermato-venereologica 1999-03, Vol.79 (2), p.150-152
Hauptverfasser:	Vasseur, F, Delaporte, E, Zabot, M T, Sturque, M N, Barrut, D, Savary, J B, Thomas, L, Thomas, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent DNA Repair Female Humans Male Rothmund-Thomson Syndrome - therapy Ultraviolet Therapy
Online-Zugang:	Volltext
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