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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
T1 0-112 Sentence denotes A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
TextSentencer_T2 113-401 Sentence denotes We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).
T2 113-401 Sentence denotes We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).
TextSentencer_T3 402-500 Sentence denotes The patient, her twin sister, and her mother also presented with cerebral cavernous malformations.
T3 402-500 Sentence denotes The patient, her twin sister, and her mother also presented with cerebral cavernous malformations.
TextSentencer_T4 501-583 Sentence denotes Based on the early onset and normocalciuria, Bartter syndrome was diagnosed first.
T4 501-583 Sentence denotes Based on the early onset and normocalciuria, Bartter syndrome was diagnosed first.
TextSentencer_T5 584-900 Sentence denotes However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS.
T5 584-900 Sentence denotes However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS.
TextSentencer_T6 901-996 Sentence denotes These mutations were not detected in 200 normal chromosomes and cosegregated within the family.
T6 901-996 Sentence denotes These mutations were not detected in 200 normal chromosomes and cosegregated within the family.
TextSentencer_T7 997-1199 Sentence denotes Analysis of complementary DNA showed that the heterozygous nucleotide change c.2633+1G>C caused the appearance of 2 RNA molecules, 1 normal transcript and 1 skipping the entire exon 22 (r.2521_2634del).
T7 997-1199 Sentence denotes Analysis of complementary DNA showed that the heterozygous nucleotide change c.2633+1G>C caused the appearance of 2 RNA molecules, 1 normal transcript and 1 skipping the entire exon 22 (r.2521_2634del).
TextSentencer_T8 1200-1334 Sentence denotes Supplementation with potassium and magnesium improved clinical symptoms and resulted in catch-up growth, but vision remained impaired.
T8 1200-1334 Sentence denotes Supplementation with potassium and magnesium improved clinical symptoms and resulted in catch-up growth, but vision remained impaired.
TextSentencer_T9 1335-1566 Sentence denotes Three similar associations of Bartter syndrome/GS with pseudotumor cerebri were found in the literature, suggesting that electrolyte abnormalities and secondary aldosteronism may have a role in idiopathic intracranial hypertension.
T9 1335-1566 Sentence denotes Three similar associations of Bartter syndrome/GS with pseudotumor cerebri were found in the literature, suggesting that electrolyte abnormalities and secondary aldosteronism may have a role in idiopathic intracranial hypertension.
TextSentencer_T10 1567-1704 Sentence denotes This study provides further evidence for the phenotypical heterogeneity of GS and its association with severe manifestations in children.
T10 1567-1704 Sentence denotes This study provides further evidence for the phenotypical heterogeneity of GS and its association with severe manifestations in children.
TextSentencer_T11 1705-1781 Sentence denotes It also shows the independent segregation of familial cavernomatosis and GS.
T11 1705-1781 Sentence denotes It also shows the independent segregation of familial cavernomatosis and GS.