Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.
Hasegawa Y et al.
Endocrine Journal, 2024
Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing.
Lin YH et al.
Mutation Research, 2015
Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.
Al-Shibli A et al.
Pediatric Nephrology (berlin, Germany), 2011
Select a paper to view details