A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation
Moe Kusakawa1,2, Takeshi Sato2, Ai Hosoda1
11Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
Human Genome Variation
|December 31, 2019
Abstract:
HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.


