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Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.
Li, Howard J; Groden, Catherine; Hoenig, Melanie P; Ray, Evan C; Ferreira, Carlos R; Gahl, Willam; Novacic, Danica.
Affiliation
  • Li HJ; Harvard Medical School, Boston, MA, 02115, USA.
  • Groden C; National Institute of Mental Health, NIH, Bethesda, MD, 20892, USA.
  • Hoenig MP; Undiagnosed Diseases Program, Office of the Clinical Director and National Human Genome Research Institute, NIH, Bethesda, MD, 20892, USA.
  • Ray EC; Harvard Medical School, Boston, MA, 02115, USA.
  • Ferreira CR; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA, 02215, USA.
  • Gahl W; Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
  • Novacic D; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
BMC Nephrol ; 20(1): 353, 2019 09 09.
Article in En | MEDLINE | ID: mdl-31500578
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Full text: 1 Database: MEDLINE Main subject: Renal Tubular Transport, Inborn Errors / Coronary Disease / Hepatocyte Nuclear Factor 1-beta / Smith-Magenis Syndrome Limits: Humans / Male / Middle aged Language: En Year: 2019 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Renal Tubular Transport, Inborn Errors / Coronary Disease / Hepatocyte Nuclear Factor 1-beta / Smith-Magenis Syndrome Limits: Humans / Male / Middle aged Language: En Year: 2019 Type: Article