Log in to save to my catalogue

Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease

Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3091287563

Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease

About this item

Full title

Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease

Publisher

Switzerland: MDPI AG

Journal title

International journal of molecular sciences, 2024-08, Vol.25 (15), p.8447

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Smith–Magenis Syndrome (SMS) is a rare genetic disorder, characterized by intellectual disability (ID), behavioral impairments, and sleep disturbances, as well as multiple organ anomalies in some affected individuals. The syndrome is caused by a deletion in the chromosome band around 17p11.2, including the Retinoic Acid Induced 1 (RAI1) gene, a mul...

Alternative Titles

Full title

Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson’s Disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_3091287563

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3091287563

Other Identifiers

ISSN

1422-0067,1661-6596

E-ISSN

1422-0067

DOI

10.3390/ijms25158447

How to access this item