Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have… Expand
  • table 2
  • table 2
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
2016
2016
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by… Expand
  • figure 1
  • figure 2
  • table II
  • figure 3
Is this relevant?
2016
2016
KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and… Expand
Is this relevant?
2015
2015
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2014
2014
KBG syndrome is a rare, autosomal dominant disorder caused by mutations or deletions leading to haploinsufficiency for the Ankrin… Expand
Is this relevant?
2014
2014
Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by… Expand
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • figure 4
Is this relevant?
2013
2013
KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal… Expand
Is this relevant?
2013
2013
KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities… Expand
Is this relevant?
Review
2006
Review
2006
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors… Expand
  • table 1
Is this relevant?
2002
2002
Improved dry matter (DM) production of cool-season grass monocultures may result from either N fertilization or the addition of… Expand
  • table 1
  • table 2
  • table 3
Is this relevant?