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

研究成果: Article査読

抄録

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.

本文言語English
論文番号55
ジャーナルHuman Genome Variation
6
1
DOI
出版ステータスPublished - 2019 12 1

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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