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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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Journal:
European journal of human genetics : EJHG
Volume:
19
Issue:
7
Pages:
757-762
Publication date:
2011-07-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:eda2cadc-12f2-43ce-9e90-7ec801e54733
Source identifiers:
164096
Local pid:
pubs:164096

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