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Severe mental retardation with breathing abnormalities (Pitt−Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Authors: Brockschmidt, Antje; Todt, Unda; Ryu, Soojin; Hoischen, Alexander; Landwehr, Christina; Birnbaum, Stefanie; Frenck, Wilhelm; Radlwimmer, Bernhard; Lichter, Peter; Engels, Hartmut; Driever, Wolfgang; Kubisch, Christian; Weber, Ruthild G.
Date of Publication (YYYY-MM-DD): 2007-06-15
Title of Journal: Hum. Mol. Genet.
Volume: 16
Issue / Number: 12
Start Page: 1488
End Page: 1494
Document Type: Article
ID: 569574.0
Rare Missense Variants in ATP1A2 in Families With Clustering of Common Forms of Migraine
Authors: Todt, Unda; Dichgans, Martin; Jurkat-Rott, Karin; Heinze, Axel; Zifarelli, Giovanni; Koenderink, Jan B.; Goebel, Ingrid; Zumbroich, Vera; Stiller, Anne; Ramirez, Alfredo; Friedrich, Thomas; Göbel, Hartmut; Kubisch, Christian
Date of Publication (YYYY-MM-DD): 2005
Title of Journal: Human Mutation
Volume: 26
Issue / Number: 4
Start Page: 315
End Page: 321
Document Type: Article
ID: 262985.0
Entries: 1-2  
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