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Article

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

Orphanet journal of rare diseases - 12 Apr 2016

de Winter Channa F, Baas Melanie, Bijlsma Emilia K, van Heukelingen John, Routledge Sue, Hennekam Raoul C M

Abstract excerpt

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 built a waihonapedia system in a collaboration between...

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Identifiers

PMID: 27072915
DOI: 10.1186/s13023-016-0422-2
PMCID: PMC4830011

Genes

TCF4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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