Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-M...
Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
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Publisher
England: BMC
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Language
English
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Publisher
England: BMC
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Scope and Contents
Contents
Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD).
To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood...
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Full title
Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_8b092706895e4762b4e869959cc80894
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8b092706895e4762b4e869959cc80894
Other Identifiers
ISSN
1866-1955
E-ISSN
1866-1955
DOI
10.1186/s11689-024-09572-7
