Literature DB >> 27827381

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

Jaak Jaeken1, Dirk J Lefeber2, Gert Matthijs3.   

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Year:  2016        PMID： 27827381      PMCID： PMC5255951          DOI： 10.1038/ejhg.2016.151

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  5 in total

1.  A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome.

Authors:  E Quentin; A Gladen; L Rodén; H Kresse
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

2.  Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Authors:  François Cartault; Patrick Munier; Marie-Line Jacquemont; Jeannine Vellayoudom; Bérénice Doray; Christine Payet; Hanitra Randrianaivo; Jean-Marc Laville; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2014-04-23       Impact factor: 4.246

Review 3.  Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Authors:  Michael H Guo; Joan Stoler; Julian Lui; Ola Nilsson; Diana W Bianchi; Joel N Hirschhorn; Andrew Dauber
Journal:  Am J Med Genet A       Date:  2013-08-16       Impact factor: 2.802

4.  Further defining the phenotypic spectrum of B4GALT7 mutations.

Authors:  Claire G Salter; Justin H Davies; Rebecca J Moon; Joanna Fairhurst; David Bunyan; Nicola Foulds
Journal:  Am J Med Genet A       Date:  2016-03-04       Impact factor: 2.802

5.  A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.

Authors:  Muhammad Faiyaz-Ul-Haque; Syed Hassan Ejaz Zaidi; Mariam Al-Ali; Mariam S Al-Mureikhi; Shelley Kennedy; Ghalia Al-Thani; Lap-Chee Tsui; Ahmad Said Teebi
Journal:  Am J Med Genet A       Date:  2004-07-01       Impact factor: 2.802
  5 in total

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