Clinical and genetic profile of WBS patient cohorts.
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https://figshare.com/articles/dataset/_Clinical_and_genetic_profile_of_WBS_patient_cohorts_/220822
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Key: +ve = deleted for ELN/LIMK1 FISH probe; −ve = not deleted for ELN/LIMK1 FISH probe. Bc refers to the centromeric breakpoint and Bm to the medial breakpoint.
#approximate size due to the breakpoints residing in LCR duplicon regions. FD = facial dysmorphology; C = cardiac abnormality; SS = short stature; Hca = hypercalcaemia; HA = Hyperacusis; HS = hypersociability; Anx = Anxiety; Fear = Fears or Phobias; DD = developmental delay.
创建时间：
2012-10-31
