相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum
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The Pitt-Hopkins Syndrome: Report of 16 New Patients and Clinical Diagnostic Criteria
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations
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Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
Jill A. Rosenfeld et al.
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Mutational, Functional, and Expression Studies of the TCF4 Gene in Pitt-Hopkins Syndrome
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Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array
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EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
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Irina Giurgea et al.
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Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
C. Zweier et al.
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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
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AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
Jeanne Amiel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Pitt-Hopkins syndrome in two patients and further definition of the phenotype
Maarit M. Peippo et al.
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Possible case of Pitt-Hopkins syndrome in sibs
A Orrico et al.
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