Neurologic and ocular phenotype in Pitt–Hopkins syndrome and a zebrafish model

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

(2010) K Takano et al.   CLINICAL GENETICS

E2-2 Protein and Fuchs's Corneal Dystrophy

(2010) Keith H. Baratz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Enhanced Depth Imaging Optical Coherence Tomography of the Choroid in Highly Myopic Eyes

(2009) Takamitsu Fujiwara et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

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

(2009) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

(2009) Lo��c de Pontual et al.   HUMAN MUTATION

Disruption of theTCF4gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

(2008) Vera M. Kalscheuer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

(2008) Joris Andrieux et al.   European Journal of Medical Genetics

TCF4Deletions in Pitt-Hopkins Syndrome

(2008) Irina Giurgea et al.   HUMAN MUTATION