Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome

Author:

Rivera-Vega M. Refugio,Juarez N. Leyva,Cuevas-Covarrubias Sergio A.,Kofman-Alfaro Susana H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference4 articles.

1. Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother;Fryns;Another variant example of the KBG syndrome? Clin Genet,1984

2. The KBG syndrome: A syndrome with short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies;Herman;Birth Defects: Original Article Series,1975

3. Short stature, craniofacial dysmorphism and dentoskeletal abnormalities in a large kindred. A variant of KBG syndrome or a new mental retardation syndrome;Parloir;Clin Genet,1977

4. The KBG syndrome follow up data on three affected brothers;Soekarman;Clin Genet,1994

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1. Congenital heart defects in molecularly confirmed KBG syndrome patients;American Journal of Medical Genetics Part A;2021-12-31

2. Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome;Molecular Cytogenetics;2015-03-26

3. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities;European Journal of Human Genetics;2012-08-29

4. Bibliography;Dento/Oro/Craniofacial Anomalies and Genetics;2012

5. KBG syndrome: review of the literature and findings of 5 affected patients;Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology;2009-09

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