A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation.
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DOI: 10.1038/s41439-019-0087-1
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… read more here.
Keywords: hdr syndrome; gata3; neonatal case; case hdr ... See more keywords