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

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.

Detalles Bibliográficos
Autores principales: Kusakawa, Moe, Sato, Takeshi, Hosoda, Ai, Araki, Eriko, Matsuzaki, Yohei, Yamashita, Yukio, Ishihara, Jun, Inagaki, Yoshinori, Uchida, Noboru, Ishii, Tomohiro, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928020/
https://www.ncbi.nlm.nih.gov/pubmed/31885872
http://dx.doi.org/10.1038/s41439-019-0087-1
Descripción
Sumario: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.

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