19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.
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DOI：
10.1002/ccr3.1600
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发表时间：
2018-07
影响因子：
0.7
通讯作者：
Speck-Martins CE
中科院分区：
文献类型：
--
作者：
Abe KT;Rizzo IMPO;Coelho ALV;Sakai N Jr;Carvalho DR;Speck-Martins CE
我们报告了一位长时间被诊断为畸形外胚层发育不良-裂（EEC）综合征的患者，随后被诊断为19q13.11微缺失。在回顾相关文献后，我们建议对EEC患者进行19q13.11微缺失检测，并将WTIP和UBA2纳入最小重叠区域。
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.