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

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....

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Hlavní autoři: Bendon, Charlotte L, Fenwick, Aimée L, Hurst, Jane A, Nürnberg, Gudrun, Nürnberg, Peter, Wall, Steven A, Wilkie, Andrew OM, Johnson, David
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3532175/
https://ncbi.nlm.nih.gov/pubmed/23140272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-104
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