Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

Building treasures for rare disorders

(2015) Melanie Baas et al.   European Journal of Medical Genetics

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

(2012) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Case of Pitt-Hopkins Syndrome With Absence of Hyperventilation

(2012) Adlette Inati et al.   JOURNAL OF CHILD NEUROLOGY

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

(2011) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

(2011) Sandra Whalen et al.   HUMAN MUTATION

Care for patients with ultra-rare disorders

(2010) Raoul CM. Hennekam   European Journal of Medical 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