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
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
Marangi G et al.
American Journal of Medical Genetics. Part A, 2012
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S et al.
Human Mutation, 2012
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G et al.
American Journal of Medical Genetics. Part A, 2011
Select a paper to view details