Novel homozygous mutations in TXNDC15 causing Meckel syndrome
Article in Molecular Genetics & Genomic Medicine (December 2023)
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Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome
Article in Frontiers in Genetics (September 2023)
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome
Article in Frontiers in Genetics (August 2022)