Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
About this item
Full title
Author / Creator
Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
Subjects
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Scope and Contents
Contents
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the
gene (OMIM# 175700), while a small proportion of cases arise from large delet...
Alternative Titles
Full title
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8623992
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8623992
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes12111674
