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Rothmund-Thomson �ۺ�����һ���ټ��ij�Ⱦɫ�������Ŵ���Ƥ��������Ҫ����ΪƤ����ɫ������İ�С�������ϡ��������κ������׸��������ǹ��������о����ֱ�����DNA����ø����RECQL4ͻ���йأ�Ȼ��Ŀǰ��RECQL4�ķ��ӹ��ܼ�����ص�ϸ��;����֪֮���١����������ò����ٴ����֡������о������С��ģ���Լ����Ƶȷ�������½�չ���з�����Ϊ��һ���о��������ṩһЩ��ʾ��

Rothmund-Thomson syndrome ��RTS�� is an unusual autosomal recessive condition characterized by poikiloderma, short stature, juvenile cataract, and a predisposition to malignant tumors, particularly osteosarcomas. It has been found that this disease is associated with the mutations of RECQL4 gene. To date, however, the molecular function and relevant cellular pathways of RECQL4 remain poorly understood. This article reviews the latest progress in the research about the clinical manifestations, involved genes, mouse models and therapy of RTS, which may provide some new ideas for further study and therapy.