Literature DB >> 6467660

Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome?

J P Fryns, M Haspeslagh.   

Abstract

Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardation is emphasised.

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Year:  1984        PMID: 6467660     DOI: 10.1111/j.1399-0004.1984.tb00792.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Twins with KBG syndrome and autism.

Authors:  Mina Hah; Linda J Lotspeich; Jennifer M Phillips; Andrea D Torres; Sue C Cleveland; Joachim F Hallmayer
Journal:  J Autism Dev Disord       Date:  2009-07-14

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.  The KBG syndrome: Case report.

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

4.  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

  4 in total

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