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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
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. Brockschmidt A, et al. Among authors: frenck w. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17478476
Recurrent meningitis in a seven-year-old girl.
Nakhla IA, Mansour A, Sultan Y, Frenck W Jr. Nakhla IA, et al. Among authors: frenck w jr. Pediatr Infect Dis J. 2002 Nov;21(11):1081, 1093-4. doi: 10.1097/00006454-200211000-00024. Pediatr Infect Dis J. 2002. PMID: 12458573 No abstract available.