Literature DB >> 7810561

Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.

M Zollino1, A Battaglia, M G D'Avanzo, M M Della Bruna, R Marini, G Scarano, M Cappa, G Neri.   

Abstract

A diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic criteria of the KBG syndrome are discussed.

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Year:  1994        PMID： 7810561     DOI： 10.1002/ajmg.1320520310

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


  8 in total

1.  Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Authors:  Asli Sirmaci; Michail Spiliopoulos; Francesco Brancati; Eric Powell; Duygu Duman; Alex Abrams; Guney Bademci; Emanuele Agolini; Shengru Guo; Berrin Konuk; Asli Kavaz; Susan Blanton; Maria Christina Digilio; Bruno Dallapiccola; Juan Young; Stephan Zuchner; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2011-07-21       Impact factor: 11.025

Review 2.  KBG syndrome.

Authors:  Francesco Brancati; Anna Sarkozy; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2006-12-12       Impact factor: 4.123

3.  A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Authors:  Ji-Hun Lim; Eul-Ju Seo; Yoo-Mi Kim; Hyun-Ju Cho; Jin-Ok Lee; Chong Kun Cheon; Han-Wook Yoo
Journal:  Ann Lab Med       Date:  2014-08-21       Impact factor: 3.464

4.  KBG syndrome involving a single-nucleotide duplication in ANKRD11.

Authors:  Robert Kleyner; Janet Malcolmson; David Tegay; Kenneth Ward; Annette Maughan; Glenn Maughan; Lesa Nelson; Kai Wang; Reid Robison; Gholson J Lyon
Journal:  Cold Spring Harb Mol Case Stud       Date:  2016-11

Review 5.  KBG syndrome.

Authors:  Dayna Morel Swols; Joseph Foster; Mustafa Tekin
Journal:  Orphanet J Rare Dis       Date:  2017-12-19       Impact factor: 4.123

6.  DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome.

Authors:  Davide Mattei; Paolo Cavarzere; Rossella Gaudino; Franco Antoniazzi; Giorgio Piacentini
Journal:  Ital J Pediatr       Date:  2021-01-25       Impact factor: 2.638

7.  The KBG syndrome: Case report.

Authors:  Ilaria Morghen; Enrico Ferri
Journal:  Cases J       Date:  2008-09-26

8.  Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

Authors:  Rita Maria Alves; Paolo Uva; Marielza F Veiga; Manuela Oppo; Fabiana C R Zschaber; Giampiero Porcu; Henrique P Porto; Ivana Persico; Stefano Onano; Gianmauro Cuccuru; Rossano Atzeni; Lauro C N Vieira; Marcos V A Pires; Francesco Cucca; Maria Betânia P Toralles; Andrea Angius; Laura Crisponi
Journal:  BMC Med Genet       Date:  2019-01-14       Impact factor: 2.103
  8 in total

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