The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

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

(2010) K Takano et al.   CLINICAL GENETICS

Mental retardation, macrostomia and hyperpnoea syndrome

(2010) H. A. SINGH   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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