一例伴有新突变的新生儿HDR综合征及血管环病例。
A neonatal case of HDR syndrome and a vascular ring with a novel mutation.
作者信息
Kusakawa Moe, Sato Takeshi, Hosoda Ai, Araki Eriko, Matsuzaki Yohei, Yamashita Yukio, Ishihara Jun, Inagaki Yoshinori, Uchida Noboru, Ishii Tomohiro, Hasegawa Tomonobu
机构信息
1Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
2Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo Japan.
出版信息
Hum Genome Var. 2019 Dec 23;6:55. doi: 10.1038/s41439-019-0087-1. eCollection 2019.
HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the gene. A vascular ring has not been reported in patients with -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 gene.
HDR综合征（OMIM编号#146255）由该基因单倍剂量不足引起。与该基因相关的HDR综合征患者中尚未有血管环的报道。我们报告了1例可能因该基因新发移码突变所致的新生儿HDR综合征合并血管环病例。
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