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

Abstract

BACKGROUND 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 disorders through a web-based database which we call 'waihonapedia' (waihona [meaning treasure in Hawaiian] encyclopaedia). METHODS We have… (More)
DOI: 10.1186/s13023-016-0422-2

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