KBG syndrome

Known as: KBGS, MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES, Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2000-2017
02420002017

Papers overview

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2017
2017
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by… (More)
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2017
2017
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have… (More)
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2016
2016
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by… (More)
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2016
2016
KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and… (More)
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2015
2015
KBG syndrome, a rare autosomal disorder characterised by distinctive craniofacial and skeletal features and developmental delay… (More)
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2014
2014
KBG syndrome is a rare, autosomal dominant disorder caused by mutations or deletions leading to haploinsufficiency for the Ankrin… (More)
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2014
2014
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay… (More)
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2014
2014
KBG syndrome is characterized by intellectual impairment and various craniofacial, skeletal and other minor physical anomalies… (More)
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2013
2013
KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal… (More)
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2000
2000
We report the sporadic case of a boy with clinical features of KBG syndrome, including slight mental retardation, characteristic… (More)
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