Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom anFGFR2mutation was found

Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom anFGFR2mutation was found

We discuss a patient with Pfeiffer syndrome who had a tracheal sleeve and anFGFR2mutation. In the light of our findings, and previous reports of patients with craniosynostosis that also reported similar mutations, we suggest that genomic screening forFGFR2may be useful in cases with negativeFGFR2mut...

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Veröffentlicht in:Clinical dysmorphology 2003-07, Vol.12 (3), p.209-209
Hauptverfasser: Zackai, Elaine H., McDonald-McGinn, Donna M., Stolle, Catherine, Huff, Dale S.
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container_title Clinical dysmorphology
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creator Zackai, Elaine H.
McDonald-McGinn, Donna M.
Stolle, Catherine
Huff, Dale S.
description We discuss a patient with Pfeiffer syndrome who had a tracheal sleeve and anFGFR2mutation. In the light of our findings, and previous reports of patients with craniosynostosis that also reported similar mutations, we suggest that genomic screening forFGFR2may be useful in cases with negativeFGFR2mutation testing. Clin Dysmorphol 12:209 © 2003 Lippincott Williams & Wilkins
doi_str_mv 10.1097/01.mcd.0000080414.95344.ae
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title Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom anFGFR2mutation was found
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