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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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations
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CLINICAL GENETICS (2010)
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
Jill A. Rosenfeld et al.
GENETICS IN MEDICINE (2009)
Mutational, Functional, and Expression Studies of the TCF4 Gene in Pitt-Hopkins Syndrome
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HUMAN MUTATION (2009)
Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array
Joris Andrieux et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
TCF4 Deletions in Pitt-Hopkins Syndrome
Irina Giurgea et al.
HUMAN MUTATION (2008)
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
Antje Brockschmidt et al.
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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
Christiane Zweier et al.
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.
CLINICAL DYSMORPHOLOGY (2006)
Possible case of Pitt-Hopkins syndrome in sibs
A Orrico et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
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