Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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Disease-causing variants in TC ...... ncing approaches in diagnosis.

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Disease-causing variants in TC ...... ncing approaches in diagnosis.

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Disease-causing variants in TC ...... ncing approaches in diagnosis.

@en

Disease-causing variants in TC ...... ncing approaches in diagnosis.

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Disease-causing variants in TC ...... ncing approaches in diagnosis.

@en

Disease-causing variants in TC ...... ncing approaches in diagnosis.

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P1476

Disease-causing variants in TC ...... ncing approaches in diagnosis.

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P2093

Anne Boland

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Bénédicte Gerard

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Christine Coubes

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Claire Feger

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Claire Redin

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Dana Timbolschi

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David Geneviève

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Elisabeth Flori

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Elise Schaefer

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Elsa Nourisson

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P2860

De novo mutations in moderate or severe intellectual disability

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

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

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

VaRank: a simple and powerful tool for ranking genetic variants

P2888

s41431-018-0096-4

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scholarly article

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10.1038/S41431-018-0096-4

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P50

Amélie Piton

Alain Verloes

P577

2018-04-26T00:00:00Z

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P698

29695756

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P932

6018712

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