Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Jill A. Rosenfeld, Kathleen Leppig, Blake C. Ballif, Heidi Thiese, Christine Erdie-Lalena, Erwati Bawle, Sujatha Sastry, J. Edward Spence, Anne Bandholz, Urvashi Surti, Jonathan Zonana, Kory Keller, Wendy Meschino, Bassem A. Bejjani, Beth S. Torchia, Lisa G. Shaffer

Research output: Contribution to journalArticlepeer-review

64 Scopus citations

Fingerprint

Dive into the research topics of 'Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations'. Together they form a unique fingerprint.

Medicine & Life Sciences