Literature DB >> 9777340

Further delineation of the KBG syndrome.

K Devriendt1, M Holvoet, J P Fryns.   

Abstract

Further Delineation of the KBG syndrome: We present a mother and her daughter with clinical features of KBG syndrome, including mild mental retardation, distinct facial features, macrodontia and skeletal anomalies. In the daughter, a heart defect (ventricular septal defect) was present.

Entities:  

Mesh：

Year:  1998        PMID： 9777340

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  6 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

2.  Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

Authors:  Seema R Lalani; Chad Shaw; Xueqing Wang; Ankita Patel; Lance W Patterson; Katarzyna Kolodziejska; Przemyslaw Szafranski; Zhishuo Ou; Qi Tian; Sung-Hae L Kang; Amina Jinnah; Sophia Ali; Aamir Malik; Patricia Hixson; Lorraine Potocki; James R Lupski; Pawel Stankiewicz; Carlos A Bacino; Brian Dawson; Arthur L Beaudet; Fatima M Boricha; Runako Whittaker; Chumei Li; Stephanie M Ware; Sau Wai Cheung; Daniel J Penny; John Lynn Jefferies; John W Belmont
Journal:  Eur J Hum Genet       Date:  2012-08-29       Impact factor: 4.246

Review 3.  Cytogenomic Aberrations in Congenital Cardiovascular Malformations.

Authors:  Mahshid Azamian; Seema R Lalani
Journal:  Mol Syndromol       Date:  2016-04-26

Review 4.  KBG syndrome.

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

5.  Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Authors:  Milena Crippa; Daniela Rusconi; Chiara Castronovo; Ilaria Bestetti; Silvia Russo; Anna Cereda; Angelo Selicorni; Lidia Larizza; Palma Finelli
Journal:  Mol Cytogenet       Date:  2015-03-26       Impact factor: 2.009

6.  The KBG syndrome: Case report.

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

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