19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype

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Abstract

We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia-clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include WTIP and UBA2 to a minimal overlapping region.

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Abe, K. T., Rizzo, I. M. P. O., Coelho, A. L. V., Sakai, N., Carvalho, D. R., & Speck-Martins, C. E. (2018). 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. Clinical Case Reports, 6(7), 1300–1307. https://doi.org/10.1002/ccr3.1600

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