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

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 [meani...

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Bibliografische gegevens
Gepubliceerd in:Orphanet J Rare Dis
Hoofdauteurs: de Winter, Channa F., Baas, Melanie, Bijlsma, Emilia K., van Heukelingen, John, Routledge, Sue, Hennekam, Raoul C. M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2016
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Research
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4830011/
https://ncbi.nlm.nih.gov/pubmed/27072915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0422-2
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