Literature DB >> 4692594

A family with blepharo-naso-facial malformations.

H Pashayan, S Pruzansky, A Putterman.   

Abstract

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Year:  1973        PMID: 4692594     DOI: 10.1001/archpedi.1973.04160030057011

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


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  2 in total

1.  Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.

Authors:  Sahar Mansour; Marielle Swinkels; Paulien A Terhal; Louise C Wilson; Philip Rich; Lionel Van Maldergem; Petra J G Zwijnenburg; Christine M Hall; Stephen P Robertson; Ruth Newbury-Ecob
Journal:  Eur J Hum Genet       Date:  2012-04-04       Impact factor: 4.246

2.  Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors:  Alain Verloes; Nataliya Di Donato; Julien Masliah-Planchon; Marjolijn Jongmans; Omar A Abdul-Raman; Beate Albrecht; Judith Allanson; Han Brunner; Debora Bertola; Nicolas Chassaing; Albert David; Koen Devriendt; Pirayeh Eftekhari; Valérie Drouin-Garraud; Francesca Faravelli; Laurence Faivre; Fabienne Giuliano; Leina Guion Almeida; Jorge Juncos; Marlies Kempers; Hatice Koçak Eker; Didier Lacombe; Angela Lin; Grazia Mancini; Daniela Melis; Charles Marques Lourenço; Victoria Mok Siu; Gilles Morin; Marjan Nezarati; Malgorzata J M Nowaczyk; Jeanette C Ramer; Sara Osimani; Nicole Philip; Mary Ella Pierpont; Vincent Procaccio; Zeichi-Seide Roseli; Massimiliano Rossi; Cristina Rusu; Yves Sznajer; Ludivine Templin; Vera Uliana; Mirjam Klaus; Bregje Van Bon; Conny Van Ravenswaaij; Bruce Wainer; Andrew E Fry; Andreas Rump; Alexander Hoischen; Séverine Drunat; Jean-Baptiste Rivière; William B Dobyns; Daniela T Pilz
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246

  2 in total

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