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1篇 您的检索式：作者名="Daniela Perotti"

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		题名	作者	年代	出处	被引量
	1	Osteopathia striata with cranial sclerosis, Wilms' tumor and the WTX gene显示文摘Osteopathia striata with cranial sclerosis(OSCS, OMIM#300373) is an X-linked dominant sclerosing bone dysplasia that shows a distinct phenotype in females and males. In 2009, Zandra Jenkins et al found that germline mutations in the FAM123 B /WTX /AMER1 gene, mapped to chromosome Xq11.2, cause both the familial and sporadic forms of OSCS. Intriguingly, the WTX gene was already known as a putative tumor suppressor gene, since in 2007 Rivera et al had reported inactivating WTX mutations in Wilms' tumor(WT), the most frequent renal tumor of childhood. Here we review the heterogeneous clinical presentation of OSCS patients and the involvement of WTX anomalies in OSCS and in WT.	Elisa Cattaneo Sara Ciceri Natascia Liberati Paolo Radice Luigi Tarani Angelo Selicorni Daniela Perotti	2014	World Journal of Medical Genetics2014，4，2：	0

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