Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations
Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, KellerVolume:
11
Langue:
english
Journal:
Genetics in Medicine
DOI:
10.1097/GIM.0b013e3181bd38a9
Date:
November, 2009
Fichier:
PDF, 1.02 MB
english, 2009
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