Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Author:

Hussain Muhammad Sajid,Battaglia Agatino,Szczepanski Sandra,Kaygusuz Emrah,Toliat Mohammad Reza,Sakakibara Shin-ichi,Altmüller Janine,Thiele Holger,Nürnberg Gudrun,Moosa Shahida,Yigit Gökhan,Beleggia Filippo,Tinschert Sigrid,Clayton-Smith Jill,Vasudevan Pradeep,Urquhart Jill E.,Donnai Dian,Fryer Alan,Percin Ferda,Brancati Francesco,Dobbie Angus,Śmigiel Robert,Gillessen-Kaesbach Gabriele,Wollnik Bernd,Noegel Angelika Anna,Newman William G.,Nürnberg Peter

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family;Meinecke;Genet. Couns.,1993

2. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?;Filippi;Am. J. Med. Genet.,1985

3. An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?;Orrico;Clin. Genet.,1997

4. Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities;Woods;J. Med. Genet.,1992

5. Expanding the phenotype of Filippi syndrome: a report of three cases;Walpole;Clin. Dysmorphol.,1999

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