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Mutations in SOX2 cause anophthalmia 总被引:12,自引:0,他引:12
Fantes J Ragge NK Lynch SA McGill NI Collin JR Howard-Peebles PN Hayward C Vivian AJ Williamson K van Heyningen V FitzPatrick DR 《Nature genetics》2003,33(4):461-463
A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation. 相似文献
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