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

ConclusionThis 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.

Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Sha Yu, Wen ‐xia Chen, Wei Lu, Chao Chen, Yihua Ni, Bo Duan, Bin Wang, Huijun Wang, Zheng‐min Xu Tags: ORIGINAL ARTICLE Source Type: research