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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9259744

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

About this item

Full title

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2022-07, Vol.30 (7), p.841-847

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management are needed for optimal care in later life. We formed an international, multidisciplinary working group that developed an accessible questionnaire including key issues about adults wit...

Alternative Titles

Full title

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9259744

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9259744

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/s41431-022-01097-8

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