A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

Moe Kusakawa, Takeshi Sato, Ai Hosoda, Eriko Araki, Yohei Matsuzaki, Yukio Yamashita, Jun Ishihara, Yoshinori Inagaki, Noboru Uchida, Tomohiro Ishii, Tomonobu Hasegawa

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number55
JournalHuman Genome Variation
Volume6
Issue number1
DOIs
Publication statusPublished - 2019 Dec 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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