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. |