Journal article
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
- Abstract:
-
Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, in association with pre- and post-axial polydactyly and cutaneous syndactyly of hands and feet. Two cases had additional sagittal synostosis. None had a family history of similar features. In all five children, the ...
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- Publication status:
- Published
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- Publisher copy:
- 10.1038/ejhg.2011.13
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Authors
Bibliographic Details
- Journal:
- European journal of human genetics : EJHG
- Volume:
- 19
- Issue:
- 7
- Pages:
- 757-762
- Publication date:
- 2011-07-01
- DOI:
- EISSN:
-
1476-5438
- ISSN:
-
1018-4813
- Source identifiers:
-
164096
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:164096
- UUID:
-
uuid:eda2cadc-12f2-43ce-9e90-7ec801e54733
- Local pid:
- pubs:164096
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2011
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