Associated Papers
Pitt-Hopkins syndrome: A case report of mild impairments and musical talents.
Arnold ZE et al.
Translational Science of Rare Diseases, 2025
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC et al.
European Journal of Human Genetics : Ejhg, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
van der Laan L et al.
Hgg Advances, 2024
A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency.
Malik S et al.
American Journal of Medical Genetics. Part A, 2024
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.
Aldeeri AA et al.
American Journal of Medical Genetics. Part A, 2023
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Popp B et al.
Clinical Genetics, 2022
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