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Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB
Salian, S., Shukla, A., Shah, H., Bhat, S.N., Bhat, V.R., Nampoothiri, S., Shenoy, R., Phadke, S.R., Hariharan, S.V., Girisha, K.M.Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.13252
Date:
March, 2018
File:
PDF, 1.10 MB
english, 2018