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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.

Abstract:

Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the genetic basis of metopic synostosis and in an attempt to restrict the candidate regions related to metopic suture fusion, we studied 76 unrelated patients with syndromic and non-syndromic trigonocephaly. We found a larger proportion of syndromic cases in our population and the ratio of affected male to female was 1.8 : 1 and 5 : 1 in th...

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Publication status:
Published

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Authors


Johnson, D More by this author
Alonso, LG More by this author
Cavalcanti, DP More by this author
de Sá Moreira, E More by this author
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Journal:
Clinical genetics
Volume:
67
Issue:
6
Pages:
503-510
Publication date:
2005-06-05
DOI:
EISSN:
1399-0004
ISSN:
0009-9163
URN:
uuid:75a736b8-12a9-4118-a860-e0aa6c88c3dd
Source identifiers:
119690
Local pid:
pubs:119690

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