Associated Papers
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
Sepp M et al.
Human Molecular Genetics, 2012
Acetazolamide for severe apnea in Pitt-Hopkins syndrome.
Verhulst SL et al.
American Journal of Medical Genetics. Part A, 2012
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