@article{14fc0da9af6743ecbc10580d32ad49a9,
title = "A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation",
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.",
author = "Moe Kusakawa and Takeshi Sato and Ai Hosoda and Eriko Araki and Yohei Matsuzaki and Yukio Yamashita and Jun Ishihara and Yoshinori Inagaki and Noboru Uchida and Tomohiro Ishii and Tomonobu Hasegawa",
note = "Funding Information: Tomonobu Hasegawa has the following financial relationships to disclose: Research funding from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd. Publisher Copyright: {\textcopyright} 2019, The Author(s).",
year = "2019",
month = dec,
day = "1",
doi = "10.1038/s41439-019-0087-1",
language = "English",
volume = "6",
journal = "Human Genome Variation",
issn = "2054-345X",
publisher = "Nature Publishing Group",
number = "1",
}