New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
About this item
Full title
Author / Creator
Publisher
MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
MDPI AG
Subjects
More information
Scope and Contents
Contents
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotyp...
Alternative Titles
Full title
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_201bad60a79a48afbfa42430bbd52181
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_201bad60a79a48afbfa42430bbd52181
Other Identifiers
ISSN
2076-3425
E-ISSN
2076-3425
DOI
10.3390/brainsci10110788
