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

Pitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 (TCF4). We have developed a new way to collect information on (ultra-)rare disorde...

Source: Orphanet Journal of Rare Diseases - April 12, 2016 Category: Internal Medicine Authors: Channa F. de Winter, Melanie Baas, Emilia K. Bijlsma, John van Heukelingen, Sue Routledge and Raoul C. M. Hennekam Source Type: research