TCF4
MIM.602272 18q21.1
Pathology
haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins Syndrome) (#17436255#)
mutations in TCF4 in Pitt-Hopkins syndrome (#17436254#)
See also
TCFs
Hirschsprung disease genes
| RET | GDNF | NRTN | SOX10 | EDNRB | EDN3 | ECE1 | ZFHX1B | PHOX2B | TCF4 |
References
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome). Am J Hum Genet. 2007 May;80(5):994-1001. PMID: #17436255#
Amiel, J.; Rio, M.; de Pontual, L.; Redon, R.; Malan, V.; Boddaert, N.; Plouin, P.; Carter, N. P.; Lyonnet, S.; Munnich, A.; Colleaux, L. : 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: 988-993, 2007. PubMed ID : #17436254#