Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis ‐van Creveld syndrome

In conclusion, we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. This article is protected by copyright. All rights reserved.

Source: Congenital Anomalies - January 6, 2016 Category: Genetics & Stem Cells Authors: Tran Quynh Nhu Nguyen, Makiko Saitoh, Huu Tung Trinh, Nguyen Minh Thien Doan, Yoko Mizuno, Masafumi Seki, Yusuke Sato, Seishi Ogawa, Masashi Mizuguchi Tags: Original Article Source Type: research