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Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

Abstract:

BACKGROUND: Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome. CASE PRESENTATION: We present a family of three affected siblings b...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1186/1471-2350-13-104

Authors


Bendon, CL More by this author
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Institution:
University of Oxford
Nürnberg, G More by this author
Nürnberg, P More by this author
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Funding agency for:
Wilkie, AO
Publisher:
BioMed Central Ltd. Publisher's website
Journal:
BMC medical genetics Journal website
Volume:
13
Issue:
1
Pages:
104
Publication date:
2012
DOI:
EISSN:
1471-2350
ISSN:
1471-2350
URN:
uuid:645a3784-0052-4241-bff7-67d990c994bd
Source identifiers:
363849
Local pid:
pubs:363849

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