Literature DB >> 10826617

The KBG syndrome.

S F Smithson1, E M Thompson, A G McKinnon, I S Smith, R M Winter.   

Abstract

We report on two boys with a combination of short stature, a broad face, macrodontia and developmental delay. These features suggest that they have the KBG syndrome, a rare but distinctive phenotype. The pattern of inheritance remains uncertain and both autosomal dominant and X-linked recessive inheritance should be considered in genetic counselling.

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Year:  2000        PMID: 10826617     DOI: 10.1097/00019605-200009020-00002

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


  4 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 frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.

Authors:  Jing Chen; Zhongmin Xia; Yulin Zhou; Xiaomin Ma; Xudong Wang; Qiwei Guo
Journal:  BMC Med Genomics       Date:  2021-03-02       Impact factor: 3.063

4.  Clinical and genetic aspects of KBG syndrome.

Authors:  Karen Low; Tazeen Ashraf; Natalie Canham; Jill Clayton-Smith; Charu Deshpande; Alan Donaldson; Richard Fisher; Frances Flinter; Nicola Foulds; Alan Fryer; Kate Gibson; Ian Hayes; Alison Hills; Susan Holder; Melita Irving; Shelagh Joss; Emma Kivuva; Kathryn Lachlan; Alex Magee; Vivienne McConnell; Meriel McEntagart; Kay Metcalfe; Tara Montgomery; Ruth Newbury-Ecob; Fiona Stewart; Peter Turnpenny; Julie Vogt; David Fitzpatrick; Maggie Williams; Sarah Smithson
Journal:  Am J Med Genet A       Date:  2016-09-26       Impact factor: 2.802

  4 in total

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