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1Latest Papers from Table of Contents or Articles in PressL. M. Boyden ; M. Choi ; K. A. Choate ; C. J. Nelson-Williams ; A. Farhi ; H. R. Toka ; I. R. Tikhonova ; R. Bjornson ; S. M. Mane ; G. Colussi ; M. Lebel ; R. D. Gordon ; B. A. Semmekrot ; A. Poujol ; M. J. Valimaki ; M. E. De Ferrari ; S. A. Sanjad ; M. Gutkin ; F. E. Karet ; J. R. Tucci ; J. R. Stockigt ; K. M. Keppler-Noreuil ; C. C. Porter ; S. K. Anand ; M. L. Whiteford ; I. D. Davis ; S. B. Dewar ; A. Bettinelli ; J. J. Fadrowski ; C. W. Belsha ; T. E. Hunley ; R. D. Nelson ; H. Trachtman ; T. R. Cole ; M. Pinsk ; D. Bockenhauer ; M. Shenoy ; P. Vaidyanathan ; J. W. Foreman ; M. Rasoulpour ; F. Thameem ; H. Z. Al-Shahrouri ; J. Radhakrishnan ; A. G. Gharavi ; B. Goilav ; R. P. Lifton
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-01-24Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Amino Acid Sequence ; Animals ; Base Sequence ; Blood Pressure/genetics ; Carrier Proteins/chemistry/*genetics ; Cohort Studies ; Cullin Proteins/chemistry/*genetics ; Electrolytes ; Exons/genetics ; Female ; Gene Expression Profiling ; Genes, Dominant/genetics ; Genes, Recessive/genetics ; Genotype ; Homeostasis/genetics ; Humans ; Hydrogen-Ion Concentration ; Hypertension/complications/*genetics/physiopathology ; Male ; Mice ; Models, Molecular ; Molecular Sequence Data ; Mutation/*genetics ; Phenotype ; Potassium/metabolism ; Pseudohypoaldosteronism/complications/*genetics/physiopathology ; Sodium Chloride/metabolism ; Water-Electrolyte Imbalance/complications/*genetics/physiopathologyPublished by: -
2Articles: DFG German National LicensesStaff View
ISSN: 1432-198XKeywords: Key words Congenital malformations ; Thrombocytopenia ; Horseshoe kidney ; TAR syndromeSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract The TAR syndrome is an inherited disorder characterized by limb abnormalities, especially absent radii, and hypomegakaryocytic thrombocytopenia. Previous reports have included two infants with genitourinary abnormalities. We report a newborn with bilaterally absent radii and foreshortened ulnae, hypoplastic humeri, a left clubfoot, a ventricular septum defect, and persistent thrombocytopenia. This constellation of abnormalities is consistent with the TAR syndrome. In addition, he had a horseshoe kidney with parenchyma of normal appearance. This is the first report of horseshoe kidney in association with the TAR syndrome.Type of Medium: Electronic ResourceURL: