Literature DB >> 9605294

Craniosynostosis and marfanoid habitus without mental retardation: report of a third case.

A Mégarbané, N Hokayem.   

Abstract

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Year:  1998        PMID： 9605294

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


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  3 in total

1.  In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Authors:  Virginie Carmignac; Julien Thevenon; Lesley Adès; Bert Callewaert; Sophie Julia; Christel Thauvin-Robinet; Lucie Gueneau; Jean-Benoit Courcet; Estelle Lopez; Katherine Holman; Marjolijn Renard; Henri Plauchu; Ghislaine Plessis; Julie De Backer; Anne Child; Gavin Arno; Laurence Duplomb; Patrick Callier; Bernard Aral; Pierre Vabres; Nadège Gigot; Eloisa Arbustini; Maurizia Grasso; Peter N Robinson; Cyril Goizet; Clarisse Baumann; Maja Di Rocco; Jaime Sanchez Del Pozo; Frédéric Huet; Guillaume Jondeau; Gwenaëlle Collod-Beroud; Christophe Beroud; Jeanne Amiel; Valérie Cormier-Daire; Jean-Baptiste Rivière; Catherine Boileau; Anne De Paepe; Laurence Faivre
Journal:  Am J Hum Genet       Date:  2012-10-25       Impact factor: 11.025

2.  Early onset marfan syndrome: Atypical clinical presentation of two cases.

Authors:  A Ozyurt; A Baykan; M Argun; O Pamukcu; H Halis; S Korkut; Z Yuksel; T Gunes; N Narin
Journal:  Balkan J Med Genet       Date:  2015-12-30       Impact factor: 0.519

Review 3.  Shprintzen-Goldberg syndrome: a rare disorder.

Authors:  Sankalp Yadav; Gautam Rawal
Journal:  Pan Afr Med J       Date:  2016-04-25
  3 in total

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