The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions-Reference-Cited by-同舟云学术

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The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions

Published:2011-06-14 Issue:6 Volume:130 Page:777-787
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Hasi Minire,Soileau Bridgette,Sebold Courtney,Hill Annice,Hale Daniel E.,O’Donnell Louise,Cody Jannine D.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-011-1020-y.pdf

Reference32 articles.

1. Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L (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. Am J Hum Genet 80(5):988–993

2. Andrieux J, Lepretre F, Cuisset AG, Delobel B, Manouvrier-Hanu S, Holder-Espinasee M (2008) Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array. Eur J Med Genet 51:172–177

3. Bayley N (2006) Bayley scales of infant and toddler development, 3rd edn. Harcourt Assessment Inc., San Antonio

4. Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG (2007) Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet 16(12):1488–1494

5. Cody JD, Heard PL, Crandall AC, Carter EM, Li J, Hardies LJ, Lancaster J, Perry B, Stratton RF, Sebold C, Schaub RL, Soileau B, Hill A, Hasi M, Fox PT, Hale DE (2009) Narrowing critical regions and determining penetrance for selected 18q− phenotypes. Am J Med Genet 149A(7):1421–1430

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1. Pitt Hopkins syndrome – TCF4 gene deletion causing severe psychomotor delay;Human Gene;2024-09

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3. 18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction;Cureus;2023-07-27

4. Fatal gastrointestinal complications in Pitt‐Hopkins syndrome;American Journal of Medical Genetics Part A;2022-12-13

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