Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
About this item
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Publisher
Switzerland: MDPI
Journal title
Language
English
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Publisher
Switzerland: MDPI
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Scope and Contents
Contents
Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the
gene associate mild intellectual disability (ID), between exons 5 to 8, moderate to severe ID and sometimes have some...
Alternative Titles
Full title
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7349262
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7349262
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes11060596
