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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… Click to show full 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.
Keywords:
hdr syndrome;
gata3;
neonatal case;
case hdr;
vascular ring
Journal Title: Human genome variation
Year Published: 2019
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Journal Title: Human genome variation
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!