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PubMed:16440883 JSONTXT 11 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-98 Sentence denotes Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
T1 0-98 Sentence denotes Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
TextSentencer_T2 99-188 Sentence denotes The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet.
T2 99-188 Sentence denotes The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet.
TextSentencer_T3 189-284 Sentence denotes Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented.
T3 189-284 Sentence denotes Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented.
TextSentencer_T4 285-373 Sentence denotes Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases.
T4 285-373 Sentence denotes Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases.
TextSentencer_T5 374-446 Sentence denotes We report a patient with a rare form of Apert syndrome with polydactyly.
T5 374-446 Sentence denotes We report a patient with a rare form of Apert syndrome with polydactyly.
TextSentencer_T6 447-576 Sentence denotes The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes).
T6 447-576 Sentence denotes The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes).
TextSentencer_T7 577-703 Sentence denotes The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion.
T7 577-703 Sentence denotes The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion.
TextSentencer_T8 704-780 Sentence denotes Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene.
T8 704-780 Sentence denotes Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene.
TextSentencer_T9 781-934 Sentence denotes Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available.
T9 781-934 Sentence denotes Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available.
TextSentencer_T10 935-1084 Sentence denotes On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome.
T10 935-1084 Sentence denotes On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome.
TextSentencer_T11 1085-1195 Sentence denotes This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.
T11 1085-1195 Sentence denotes This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.