Literature DB >> 30256248

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.

Sigrún Grímsdóttir1,2,3, Hanne B Hove4,5, Sven Kreiborg1,6,2,3, Jakob Ek7, Anders Johansen8, Tron A Darvann1,2,9,3, Nuno V Hermann1,6,2,3.   

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Year:  2019        PMID： 30256248     DOI： 10.1097/MCD.0000000000000244

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  2 in total

1.  Unique skeletal manifestations in patients with Primrose syndrome.

Authors:  Veronica Arora; Eyby Leon; Jullianne Diaz; Hanne Buciek Hove; Daniel Rocha Carvalho; Kenji Kurosawa; Naoto Nishimura; Gen Nishimura; Renu Saxena; Carlos Ferreira; Ratna Dua Puri; Ishwar C Verma
Journal:  Eur J Med Genet       Date:  2020-05-27       Impact factor: 2.465

2.  Primrose syndrome: Characterization of the phenotype in 42 patients.

Authors:  Daniela Melis; Daniel Carvalho; Tina Barbaro-Dieber; Alberto J Espay; Michael J Gambello; Blanca Gener; Erica Gerkes; Marrit M Hitzert; Hanne B Hove; Sandra Jansen; Petr E Jira; Katherine Lachlan; Leonie A Menke; Vinodh Narayanan; Damara Ortiz; Eline Overwater; Renata Posmyk; Keri Ramsey; Alessandro Rossi; Renata Lazari Sandoval; Constance Stumpel; Kyra E Stuurman; Viviana Cordeddu; Peter Turnpenny; Pietro Strisciuglio; Marco Tartaglia; Sheela Unger; Todd Waters; Clare Turnbull; Raoul C Hennekam
Journal:  Clin Genet       Date:  2020-04-20       Impact factor: 4.438
  2 in total

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