Literature DB >> 21567928

A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus.

Murat Derbent1, Yunus Emre Bikmaz, Muhtesem Agildere.   

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Year:  2011        PMID: 21567928     DOI: 10.1002/ajmg.a.34006

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

1.  Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Authors:  David J Amor; Sarah E M Stephenson; Mirna Mustapha; Martin A Mensah; Charlotte W Ockeloen; Wei Shern Lee; Rick M Tankard; Dean G Phelan; Marwan Shinawi; Arjan P M de Brouwer; Rolph Pfundt; Cari Dowling; Tomi L Toler; V Reid Sutton; Emanuele Agolini; Martina Rinelli; Rossella Capolino; Diego Martinelli; Giuseppe Zampino; Miroslav Dumić; William Reardon; Charles Shaw-Smith; Richard J Leventer; Martin B Delatycki; Tjitske Kleefstra; Stefan Mundlos; Geert Mortier; Melanie Bahlo; Nicola J Allen; Paul J Lockhart
Journal:  Am J Hum Genet       Date:  2019-04-11       Impact factor: 11.025

  1 in total

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