Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing.

CONCLUSIONS: The result suggested that the two novel mutations may be pathogenic for the disease in these families under the dominant model, provided the initial data for further functional studies to investigate whether those mutations play a disturbing role in the molecular network of syndactyly.
PMID: 32165123 [PubMed - as supplied by publisher]

Source: International Journal of Clinical Chemistry - March 8, 2020 Category: Chemistry Authors: Thy Ngoc N, Thuy Duong N, Hai Quynh D, Dang Ton N, Hai Duc H, Thi Minh Huong L, Thi Lan Anh L, Van Hai N Tags: Clin Chim Acta Source Type: research