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

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1 Published in 2019 at "Human genome variation"

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

HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism

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0 Published in 2019 at "Case Reports in Endocrinology"

DOI: 10.1155/2019/7276947

Abstract: HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. Approximately 65% of patients with HDR syndrome have all three of these… read more here.

Keywords: hdr syndrome; type diabetes; diabetes mellitus; mellitus hypopituitarism ... See more keywords