Literature DB >> 20827784

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

Eelco Dulfer1, Lies H Hoefsloot, Albertus Timmer, Constantijne Mom, Anthonie J van Essen.   

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Year:  2010        PMID： 20827784     DOI： 10.1002/ajmg.a.33650

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


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  2 in total

1.  Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Authors:  Fadi Nasser; Susanne Kohl; Anne Kurtenbach; Melanie Kempf; Saskia Biskup; Theresia Zuleger; Tobias B Haack; Nicole Weisschuh; Katarina Stingl; Eberhart Zrenner
Journal:  Genes (Basel)       Date:  2022-07-08       Impact factor: 4.141

2.  Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Authors:  Miriam Zacchia; Francesca Del Vecchio Blanco; Francesco Trepiccione; Giancarlo Blasio; Annalaura Torella; Andrea Melluso; Giovanna Capolongo; Rosa Maria Pollastro; Giulio Piluso; Valentina Di Iorio; Francesca Simonelli; Davide Viggiano; Alessandra Perna; Vincenzo Nigro; Giovambattista Capasso
Journal:  J Nephrol       Date:  2021-05-08       Impact factor: 3.902
  2 in total

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