共 7 条
- [1] RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (03): : 395 - 399
- [2] Reply to letter by Volpi regarding:: "RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient" AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (01): : 103 - 103
- [4] Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes European Journal of Pediatrics, 2008, 167 : 175 - 181
- [7] Two new mutations in the RECQL4 gene of a Han Chinese patient with Rothmund-Thomson syndrome (RTS) FASEB JOURNAL, 2008, 22