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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.
Autores principales: | Kusakawa, Moe, Sato, Takeshi, Hosoda, Ai, Araki, Eriko, Matsuzaki, Yohei, Yamashita, Yukio, Ishihara, Jun, Inagaki, Yoshinori, Uchida, Noboru, Ishii, Tomohiro, Hasegawa, Tomonobu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
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 |
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