Literature DB >> 4073130

Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?

G Filippi.   

Abstract

A syndrome with similarities to blepharo-naso-facial and KBG syndromes is described, indicating some important differences.

Entities:  

Mesh：

Year:  1985        PMID： 4073130     DOI： 10.1002/ajmg.1320220416

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 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.  Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.

Authors:  C G Woods; M Crouchman; S M Huson
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

3.  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

Review 4.  Filippi syndrome: a new case with skeletal abnormalities.

Authors:  D Héron; T Billette de Villemeur; A Munnich; S Lyonnet
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

5.  A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.

Authors:  Muhammad Jawad Hassan; Muhammad Salman Chishti; Syed Muhammad Jamal; Muhammad Tariq; Wasim Ahmad
Journal:  Hum Genet       Date:  2007-12-11       Impact factor: 4.132

6.  Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?

Authors:  K Zerres; M Rietschel; E Rietschel; F Majewski; P Meinecke
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

7.  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

8.  Multiple dental and skeletal abnormalities in an individual with filippi syndrome.

Authors:  Meera Sandhu; Pooja Malik; Rooposhi Saha
Journal:  Case Rep Dent       Date:  2013-10-08
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.