Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.

Sha YuWen-Xia ChenWei LuChao ChenYihua NiBo DuanBin WangHuijun WangZheng-Min Xu

Published in: Molecular genetics & genomic medicine (2020)

This study provides a special case which is phenotype-driven dual diagnoses, and the two novel variants can parsimoniously explain the complex clinical presentations of this patient.

Keyphrases

copy number
case report
transcription factor
early onset
gene expression
dna methylation
genome wide