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PubMed:23528852 JSONTXT 11 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-81 Sentence denotes A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
T1 0-81 Sentence denotes A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
TextSentencer_T2 82-240 Sentence denotes Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS).
T2 82-240 Sentence denotes Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS).
TextSentencer_T3 241-366 Sentence denotes The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes.
T3 241-366 Sentence denotes The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes.
TextSentencer_T4 367-524 Sentence denotes Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene.
T4 367-524 Sentence denotes Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene.
TextSentencer_T5 525-720 Sentence denotes The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease.
T5 525-720 Sentence denotes The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease.
TextSentencer_T6 721-828 Sentence denotes Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.
T6 721-828 Sentence denotes Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.