Novel homozygous mutations in TXNDC15 causing Meckel syndrome

ConclusionOur study identified a new mutation that adds to the mutational landscape of MKS, which provide a basis for genetic counseling and the selection of reproductive options.

Source: Molecular Genetics & Genomic Medicine - December 30, 2023 Category: Genetics & Stem Cells Authors: Tianqin Deng, Yuli Xie Tags: CLINICAL REPORT Source Type: research