Literature DB >> 10532170

Expanding the phenotype of Filippi syndrome: a report of three cases.

I R Walpole1, T Parry, J Goldblatt.   

Abstract

This report is of two brothers and a male singleton with clinical characteristics of Filippi syndrome, born to young, healthy, non-consanguineous parents. Their features, which include borderline to milder developmental delay, particularly of speech and language, primary microdontia and previously unreported radiological findings are described to further delineate and expand the clinical spectrum of the condition.

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Mesh:

Year:  1999        PMID: 10532170

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

1.  Filippi Syndrome: Report of a Rare Case.

Authors:  Lata Goyal; Jagdish Prasad Goyal; Bhanu Kiran Bhakhri; Ashi Chug
Journal:  J Clin Diagn Res       Date:  2015-12-01

2.  Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Authors:  Muhammad Sajid Hussain; Agatino Battaglia; Sandra Szczepanski; Emrah Kaygusuz; Mohammad Reza Toliat; Shin-ichi Sakakibara; Janine Altmüller; Holger Thiele; Gudrun Nürnberg; Shahida Moosa; Gökhan Yigit; Filippo Beleggia; Sigrid Tinschert; Jill Clayton-Smith; Pradeep Vasudevan; Jill E Urquhart; Dian Donnai; Alan Fryer; Ferda Percin; Francesco Brancati; Angus Dobbie; Robert Smigiel; Gabriele Gillessen-Kaesbach; Bernd Wollnik; Angelika Anna Noegel; William G Newman; Peter Nürnberg
Journal:  Am J Hum Genet       Date:  2014-11-06       Impact factor: 11.025

3.  Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Authors:  Ryan J Patrick; Jill Weimer; Laura Davis-Keppen; Megan L Landsverk
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24
  3 in total

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